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Tonello S, D’Onghia D, Di Ruscio A, Mora SM, Vincenzi F, Caria G, Fracchia A, Vercellino N, Bussolati B, Tanzi A, Rizzi M, Minisini R, Sola D, Scacchi M, Mai S, Pirisi M, Smirne C, Grossini E, Cantaluppi V, Comi C, Murdaca G, Colangelo D, Sainaghi PP. Extracellular Vesicles as a Potential Biomarker of Pulmonary Arterial Hypertension in Systemic Sclerosis. Pharmaceuticals (Basel) 2025; 18:259. [PMID: 40006072 PMCID: PMC11859480 DOI: 10.3390/ph18020259] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/09/2025] [Revised: 01/28/2025] [Accepted: 02/11/2025] [Indexed: 02/27/2025] Open
Abstract
Introduction: Pulmonary arterial hypertension (PAH) and interstitial lung disease (ILD) are severe complications of patients with systemic sclerosis (SSc). Currently, there are a few tests for early identification of these conditions, although they are invasive and time-consuming. Extracellular vesicles (EVs) offer a promising possibility for gathering information on tissue health. This study aims to characterize EVs in cases of systemic sclerosis complicated by pulmonary hypertension and pulmonary fibrosis. Methods: A cohort of 58 patients with SSc was evaluated, including 14 with pulmonary hypertension, 17 with pulmonary fibrosis, and 27 without complications. Additionally, 11 healthy subjects, matched for sex and age, served as a control group. EVs were characterized by using a MACSplex kit to analyze the expression of 37 membrane markers. Results: After the overall analysis, we show that EVs from SSc patients had higher expression of CD146, CD42a, and CD29 (p = 0.03, p = 0.02 and p = 0.05) but lower expression of HLA-ABC with respect to the control patients (p = 0.02). Multivariate analyses demonstrated that only CD42a has a significant association with the disease (p = 0.0478). In group comparative analyses (PAH, ILD, uncomplicated systemic sclerosis (named SSc no PAH no ILD), and controls), CD3 and CD56 were higher in PAH patients, with respect to the controls, ILD, and the group SSc no PAH no ILD (CD3: p = 0.01, p = 0.003, p = 0.0005; CD56: p = 0.002, p < 0.0001, p = 0.0002). HLA-DR showed higher expression in PAH patients with respect to ILD patients (p = 0.02), CD25 showed higher expression in PAH patients with respect uncomplicated SSc (p = 0.02), and CD42a showed higher expression in PAH patients with respect to the controls (p = 0.03); nevertheless, multivariate analyses demonstrated that only CD3 retained its association with PAH. Conclusions: The expression of CD42a, a platelet-derived marker indicating endothelial damage, suggests its potential to provide information on the state of the microcirculation in systemic sclerosis. The higher expression of CD3 on the surface of the EVs in PAH patients might indicate increased T-cell activity in tissues, with a possible association with the development of pulmonary hypertension.
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Affiliation(s)
- Stelvio Tonello
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
| | - Davide D’Onghia
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
- Cancer Research Institute, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA;
| | - Annalisa Di Ruscio
- Cancer Research Institute, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA;
- Harvard Medical School Initiative for RNA Medicine, Harvard Medical School, Boston, MA 02115, USA
| | - Silvia Maria Mora
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
| | - Federica Vincenzi
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
| | - Giulia Caria
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
| | - Alessia Fracchia
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
| | - Nicole Vercellino
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
| | - Benedetta Bussolati
- Molecular Biotechnology Center “Guido Tarone”, Department of Molecular Biotechnology and Health Sciences, Università di Torino, 10125 Torino, Italy; (B.B.); (A.T.)
| | - Adele Tanzi
- Molecular Biotechnology Center “Guido Tarone”, Department of Molecular Biotechnology and Health Sciences, Università di Torino, 10125 Torino, Italy; (B.B.); (A.T.)
| | - Manuela Rizzi
- Human Anatomy Laboratory, Department of Health Sciences, Università del Piemonte Orientale (UPO), 28100 Novara, Italy
| | - Rosalba Minisini
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
| | - Daniele Sola
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
- Laboratory of Metabolic Research, IRCCS Istituto Auxologico Italiano, 28824 Oggebbio, Italy; (M.S.); (S.M.)
| | - Massimo Scacchi
- Laboratory of Metabolic Research, IRCCS Istituto Auxologico Italiano, 28824 Oggebbio, Italy; (M.S.); (S.M.)
- Department of Clinical Sciences and Community Health, Università di Milano, 20122 Milano, Italy
| | - Stefania Mai
- Laboratory of Metabolic Research, IRCCS Istituto Auxologico Italiano, 28824 Oggebbio, Italy; (M.S.); (S.M.)
| | - Mario Pirisi
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
- Department of Internal Medicine and Rheumatology Unit, AOU Maggiore della Carità, 28100 Novara, Italy
| | - Carlo Smirne
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
- Department of Internal Medicine and Rheumatology Unit, AOU Maggiore della Carità, 28100 Novara, Italy
| | - Elena Grossini
- Laboratory of Physiology, Department of Translational Medicine, Università del Piemonte Orientale (UPO), 28100 Novara, Italy;
| | - Vincenzo Cantaluppi
- Nephrology Unit, Department of Translational Medicine, Università del Piemonte Orientale (UPO), 28100 Novara, Italy;
| | - Cristoforo Comi
- Neurology Unit, Department of Translational Medicine, Università del Piemonte Orientale (UPO), 28100 Novara, Italy;
| | - Giuseppe Murdaca
- Department of Internal Medicine, University of Genova, 16132 Genova, Italy;
- Allergology and Clinical Immunology Unit, San Bartolomeo Hospital, 19038 Sarzana, Italy
| | - Donato Colangelo
- Pharmacology, Department of Health Sciences, Università del Piemonte Orientale (UPO), 28100 Novara, Italy;
| | - Pier Paolo Sainaghi
- Department on Translational Medicine, Università del Piemonte Orientale, 28100 Novara, Italy; (S.T.); (D.D.); (S.M.M.); (F.V.); (G.C.); (A.F.); (N.V.); (R.M.); (M.P.); (C.S.); (P.P.S.)
- Department of Internal Medicine and Rheumatology Unit, AOU Maggiore della Carità, 28100 Novara, Italy
- CAAD-Center for Autoimmune and Allergic Diseases and IRCAD-Interdisciplinary Research Center for Autoimmune Diseases, Università del Piemonte Orientale (UPO), 28100 Novara, Italy
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Wang F, Li C, Li X, Li S, Jia Y. Autoantibodies in systemic sclerosis overlap syndrome and their correlation with organ damage and survival. Ann Med 2024; 56:2407526. [PMID: 39348269 PMCID: PMC11443570 DOI: 10.1080/07853890.2024.2407526] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/16/2024] [Revised: 07/24/2024] [Accepted: 08/06/2024] [Indexed: 10/02/2024] Open
Abstract
BACKGROUND Systemic sclerosis (SSc) often overlaps with other autoimmune diseases. More complex autoantibody profiles may be observed in SSc overlap syndrome (SSc OS). To determine the clinical significance of autoantibodies in SSc OS and classify the patients more accurately for better disease assessments, we analysed the correlation between serological profiles, organ involvements and outcomes. METHODS A retrospective cohort study was conducted in Peking University People's Hospital. Chi-square tests and analysis of variance were used to analyse univariate comparisons of clinical symptoms, organ involvement and laboratory indicators. Survival was evaluated using Cox proportional hazards model. RESULTS Among 141 cases, anti-Ro-52 was the most common antibody, followed by anti-centromere antibody and anti-Scl-70 antibody. We analysed the correlation between autoantibodies and vital organ damage in SSc OS patients, and compared the differences across four SSc OS subgroups (SSc SLE, SSc RA, SSc PM/DM and SSc SS) to demonstrate the correlation between autoantibodies and clinical characteristics and organ damage. Cox regression analysis showed that scleroderma renal crisis (SRC) (p = .004) and pulmonary arterial hypertension (PH) (p = .010) were independent risk factors for survival. CONCLUSIONS Autoantibodies are associated with clinical features, organ involvement and prognosis in SSc OS patients. Anti-Scl-70 antibody is associated with interstitial lung disease (ILD) and SRC, while ACA is a protective factor of ILD. SRC and PH are risk factors associated with death.
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Affiliation(s)
- Fangqing Wang
- Department of Rheumatology and Immunology, Peking University People's Hospital & Beijing Key Laboratory for Rheumatism Mechanism and Immune Diagnosis (BZ0135), Beijing, China
| | - Chun Li
- Department of Rheumatology and Immunology, Peking University People's Hospital & Beijing Key Laboratory for Rheumatism Mechanism and Immune Diagnosis (BZ0135), Beijing, China
| | - Xue Li
- Department of Rheumatology and Immunology, Peking University People's Hospital & Beijing Key Laboratory for Rheumatism Mechanism and Immune Diagnosis (BZ0135), Beijing, China
| | - Siying Li
- Department of Rheumatology and Immunology, Peking University People's Hospital & Beijing Key Laboratory for Rheumatism Mechanism and Immune Diagnosis (BZ0135), Beijing, China
| | - Yuan Jia
- Department of Rheumatology and Immunology, Peking University People's Hospital & Beijing Key Laboratory for Rheumatism Mechanism and Immune Diagnosis (BZ0135), Beijing, China
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Denton CP, De Lorenzis E, Roblin E, Goldman N, Alcacer-Pitarch B, Blamont E, Buch MH, Carulli M, Cotton C, Del Galdo F, Derrett-Smith E, Douglas K, Farrington S, Fligelstone K, Gompels L, Griffiths B, Herrick A, Hughes M, Pain C, Pantano G, Pauling JD, Prabu A, O’Donoghue N, Renzoni EA, Royle J, Samaranayaka M, Spierings J, Tynan A, Warburton L, Ong VH. The 2024 British Society for Rheumatology guideline for management of systemic sclerosis. Rheumatology (Oxford) 2024; 63:2956-2975. [PMID: 39255973 PMCID: PMC11534099 DOI: 10.1093/rheumatology/keae394] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/06/2024] [Accepted: 06/06/2024] [Indexed: 09/12/2024] Open
Abstract
This guideline was developed according to the British Society for Rheumatology Guidelines Protocol by a Guideline Development Group comprising healthcare professionals with expertise in SSc and people with lived experience, as well as patient organization representatives. It is an update of the previous 2015 SSc guideline. The recommendations were developed and agreed by the group and are underpinned by published evidence, assessed by systematic literature review and reinforced by collective expert opinion of the group. It considers all aspects of SSc including general management, treatment of organ-based complications, including cardiopulmonary, renal and gastrointestinal tract manifestations, as well as broader impact of disease. Whilst it is focused on adults with SSc we expect that the guideline will be relevant to people of all ages and expert input and review by paediatric rheumatologists and other relevant specialists considered where the guideline was, or may not be, applicable to young people with SSc and juvenile-onset disease. In addition to providing guidance on disease assessment and management the full guideline also considers service organization within the National Health Service and future approaches to audit of the guideline. The lay summary that accompanies this abstract can be found in Supplemental information 1.
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Affiliation(s)
| | - Enrico De Lorenzis
- Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK
| | - Elen Roblin
- Centre for Rheumatology, Royal Free London NHS Foundation Trust, London, UK
| | - Nina Goldman
- Division of Medicine, University College London, London, UK
| | | | | | - Maya H Buch
- Department of Rheumatology, University of Manchester, Manchester, UK
| | - Maresa Carulli
- Department of Rheumatology, Hammersmith Hospitals NHS Foundation Trust, London, UK
| | - Caroline Cotton
- Department of Rheumatology, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK
| | - Francesco Del Galdo
- Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK
| | | | - Karen Douglas
- Department of Rheumatology, The Dudley Group NHS Foundation Trust, Dudley, UK
| | | | - Kim Fligelstone
- Centre for Rheumatology, Royal Free London NHS Foundation Trust, London, UK
| | - Luke Gompels
- Department of Rheumatology, Somerset NHS Foundation Trust, Taunton, UK
| | | | - Ariane Herrick
- Department of Rheumatology, University of Manchester, Manchester, UK
| | - Michael Hughes
- Department of Rheumatology, University of Manchester, Manchester, UK
| | - Clare Pain
- Department of Rheumatology, Alder Hey Childrens Hospital, Liverpool, UK
| | | | - John D Pauling
- Department of Rheumatology, North Bristol NHS Foundation Trust, Bristol, UK
| | | | - Nuala O’Donoghue
- Department of Dermatology, Northern Care Alliance, Salford Royal, UK
| | | | - Jeremy Royle
- Department of Rheumatology, University Hospitals NHS Foundation Trust, Leicester, UK
| | | | - Julia Spierings
- Department of Rheumatology, University of Utrecht, Utrecht, Netherlands
| | - Aoife Tynan
- Centre for Rheumatology, Royal Free London NHS Foundation Trust, London, UK
| | | | - Voon H Ong
- Division of Medicine, University College London, London, UK
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Gopal SN, Vakati D, David K, Palanisamy S, Rajendran K. Unraveling the Complexity: A Rare Case of Systemic Sclerosis, Rheumatoid Arthritis, and Systemic Lupus Erythematosus Overlap Syndrome. Cureus 2024; 16:e68405. [PMID: 39360097 PMCID: PMC11446494 DOI: 10.7759/cureus.68405] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/01/2024] [Indexed: 10/04/2024] Open
Abstract
Overlap syndromes involving systemic sclerosis (SSc), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE) are rare and present significant diagnostic and therapeutic challenges. This case report details a 54-year-old female who presented with a constellation of clinical and serological features suggestive of both SSc, RA, and SLE. The patient's clinical course, diagnostic findings, and response to treatment are discussed highlighting the need for a multidisciplinary approach in managing such complex cases.
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Affiliation(s)
- Sava Nanda Gopal
- Internal Medicine, Saveetha Medical College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND
| | - Deepthi Vakati
- Internal Medicine, Saveetha Medical College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND
| | - Kanimozhi David
- Internal Medicine, Saveetha Medical College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND
| | - Saranya Palanisamy
- Internal Medicine, Saveetha Medical College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND
| | - Kannan Rajendran
- Internal Medicine, Saveetha Medical College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND
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Luo Y, Khan A, Liu L, Lee CH, Perreault GJ, Pomenti SF, Gourh P, Kiryluk K, Bernstein EJ. Cross-Phenotype GWAS Supports Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis. MEDRXIV : THE PREPRINT SERVER FOR HEALTH SCIENCES 2024:2024.07.01.24309721. [PMID: 39006426 PMCID: PMC11245064 DOI: 10.1101/2024.07.01.24309721] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 07/16/2024]
Abstract
Objective An increased risk of primary biliary cholangitis (PBC) has been reported in patients with systemic sclerosis (SSc). Our study aims to investigate the shared genetic susceptibility between the two disorders and to define candidate causal genes using cross-phenotype GWAS meta-analysis. Methods We performed cross-phenotype GWAS meta-analysis and colocalization analysis for SSc and PBC. We performed both genome-wide and locus-based analysis, including tissue and pathway enrichment analyses, fine-mapping, colocalization analyses with expression quantitative trait loci (eQTL) and protein quantitative trait loci (pQTL) datasets, and phenome-wide association studies (PheWAS). Finally, we used an integrative approach to prioritize candidate causal genes from the novel loci. Results We detected a strong genetic correlation between SSc and PBC (rg = 0.84, p = 1.7 × 10-6). In the cross-phenotype GWAS meta-analysis, we identified 44 non-HLA loci that reached genome-wide significance (p < 5 × 10-8). Evidence of shared causal variants between SSc and PBC was found for nine loci, five of which were novel. Integrating multiple sources of evidence, we prioritized CD40, ERAP1, PLD4, SPPL3, and CCDC113 as novel candidate causal genes. The CD40 risk locus colocalized with trans-pQTLs of multiple plasma proteins involved in B cell function. Conclusion Our study supports a strong shared genetic susceptibility between SSc and PBC. Through cross-phenotype analyses, we have prioritized several novel candidate causal genes and pathways for these disorders.
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Affiliation(s)
- Yiming Luo
- Division of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY
| | - Atlas Khan
- Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY
| | - Lili Liu
- Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY
| | - Cue Hyunkyu Lee
- Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY
| | - Gabriel J Perreault
- Division of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY
| | - Sydney F Pomenti
- Division of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY
| | - Pravitt Gourh
- Scleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
| | - Krzysztof Kiryluk
- Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY
| | - Elana J Bernstein
- Division of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY
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Knobler R, Geroldinger-Simić M, Kreuter A, Hunzelmann N, Moinzadeh P, Rongioletti F, Denton CP, Mouthon L, Cutolo M, Smith V, Gabrielli A, Bagot M, Olesen AB, Foeldvari I, Jalili A, Kähäri V, Kárpáti S, Kofoed K, Olszewska M, Panelius J, Quaglino P, Seneschal J, Sticherling M, Sunderkötter C, Tanew A, Wolf P, Worm M, Skrok A, Rudnicka L, Krieg T. Consensus statement on the diagnosis and treatment of sclerosing diseases of the skin, Part 1: Localized scleroderma, systemic sclerosis and overlap syndromes. J Eur Acad Dermatol Venereol 2024; 38:1251-1280. [PMID: 38456584 DOI: 10.1111/jdv.19912] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/07/2023] [Accepted: 01/26/2024] [Indexed: 03/09/2024]
Abstract
The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present consensus provides an update to the 2017 European Dermatology Forum Guidelines, focusing on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis. In addition, updated strategies for the first- and advanced-line therapy of sclerosing skin diseases are addressed in detail. Part 1 of this consensus provides clinicians with an overview of the diagnosis and treatment of localized scleroderma (morphea), and systemic sclerosis including overlap syndromes.
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Affiliation(s)
- R Knobler
- Department of Dermatology, Medical University of Vienna, Vienna, Austria
| | - M Geroldinger-Simić
- Department of Dermatology, Ordensklinikum Linz Elisabethinen, Linz, Austria
- Faculty of Medicine, Johannes Kepler University, Linz, Austria
| | - A Kreuter
- Department of Dermatology, Venereology and Allergology, HELIOS St. Elisabeth Klinik Oberhausen, University Witten-Herdecke, Oberhausen, Germany
| | - N Hunzelmann
- Department of Dermatology and Venereology, University of Cologne, Cologne, Germany
| | - P Moinzadeh
- Department of Dermatology and Venereology, University of Cologne, Cologne, Germany
| | - F Rongioletti
- Vita Salute University IRCSS San Raffaele Hospital, Milan, Italy
| | - C P Denton
- Center for Rheumatology, Royal Free and University College Medical School, London, UK
| | - L Mouthon
- Service de Médecine Interne, Centre de Référence Maladies Auto-Immunes et Systémiques Rares d'Ile de France, APHP-CUP, Hôpital Cochin, Paris, France
- Institut Cochin, Université de Paris Cité, Paris, France
| | - M Cutolo
- Laboratories for Experimental Rheumatology and Academic Division of Clinical Rheumatology, Department of Internal Medicine DiMI, University Medical School of Genoa, IRCCS San Martino Genoa, Genoa, Italy
| | - V Smith
- Department of Internal Medicine, Ghent University, Ghent, Belgium
- Department of Rheumatology, Ghent University Hospital, Ghent, Belgium
- Unit for Molecular Immunology and Inflammation, VIB Inflammation Research Center (IRC), Ghent, Belgium
| | - A Gabrielli
- Fondazione di Medicina Molecolare e Terapia Cellulare, Università Politecnica delle Marche, Ancona, Italy
| | - M Bagot
- Department of Dermatology, Hôpital Saint-Louis, Université Paris Cité, Paris, France
| | - A B Olesen
- Department of Dermatology, University Hospital of Aarhus, Aarhus, Denmark
| | - I Foeldvari
- Hamburg Centre for Pediatric and Adolescent Rheumatology, Schön Klinik Hamburg Eilbek, Hamburg, Germany
| | - A Jalili
- Dermatology & Skin Care Clinic, Buochs, Switzerland
| | - V Kähäri
- Department of Dermatology and Venereology, University of Turku and Turku University Hospital, Turku, Finland
| | - S Kárpáti
- Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary
| | - K Kofoed
- The Skin Clinic, Copenhagen, Denmark
| | - M Olszewska
- Department of Dermatology, Medical University of Warsaw, Warsaw, Poland
| | - J Panelius
- Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
| | - P Quaglino
- Department of Medical Sciences, Dermatologic Clinic, University of Turin, Turin, Italy
| | - J Seneschal
- Department of Dermatology and Pediatric Dermatology, National Centre for Rare Skin Disorders, Hôpital Saint-Andre, University of Bordeaux, CNRS, Immuno CencEpT, UMR 5164, Bordeaux, France
| | - M Sticherling
- Department of Dermatology, Universitätsklinikum Erlangen, Erlangen, Germany
| | - C Sunderkötter
- Department of Dermatology and Venereology, University Hospital Halle, Halle (Saale), Germany
| | - A Tanew
- Private Practice, Vienna, Austria
| | - P Wolf
- Department of Dermatology, Medical University of Graz, Graz, Austria
| | - M Worm
- Division of Allergy and Immunology, Department of Dermatology, Venereology and Allergology, University Hospital Charité - Universitätsmedizin Berlin, Berlin, Germany
| | - A Skrok
- Department of Dermatology, Medical University of Warsaw, Warsaw, Poland
| | - L Rudnicka
- Department of Dermatology, Medical University of Warsaw, Warsaw, Poland
| | - T Krieg
- Department of Dermatology and Venereology, and Translational Matrix Biology, University of Cologne, Cologne, Germany
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7
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Watanabe T, Ototake Y, Akita A, Suzuki M, Kanaoka M, Tamura J, Saigusa Y, Yamaguchi Y. Clinical features of patients with systemic sclerosis positive for anti-SS-A antibody: a cohort study of 156 patients. Arthritis Res Ther 2024; 26:93. [PMID: 38702799 PMCID: PMC11067241 DOI: 10.1186/s13075-024-03325-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/11/2024] [Accepted: 04/21/2024] [Indexed: 05/06/2024] Open
Abstract
BACKGROUND Anti-SS-A/Ro antibody (anti-SSA), the diagnostic marker of Sjögren's syndrome (SS), is often detected in systemic sclerosis (SSc). Some patients are diagnosed with SSc/SS overlap syndromes, while there are anti-SSA-positive SSc cases without SS. In this study, we investigated the clinical characteristics of SSc with anti-SSA and clarified the clinical impact of this antibody in SSc. METHODS A retrospective chart review was conducted of 156 patients with SSc at Yokohama City University Hospital from 2018 to 2021. Clinical data, laboratory data, imaging, and autoantibody positivity status were collected and analysed to assess the association between these variables and anti-SSA using multivariable logistic regression analysis. RESULTS This cohort included 18 men and 138 women with SSc (median age, 69.0 years). Thirty-nine patients had diffuse cutaneous SSc (dcSSc) (25%), and 117 patients had limited cutaneous SSc (75%). Forty-four patients were anti-SSA-positive. Among them, 24 fulfilled the SS criteria. Multivariable logistic regression revealed that anti-SSA was statistically associated with interstitial lung disease (ILD; odds ratio [OR] = 2.67; 95% confidence interval [CI], 1.14-6.3; P = 0.024). Meanwhile, anti-SSA positivity tended to increase the development of digital ulcer (OR = 2.18; 95% CI, 0.99-4.82, P = 0.054). In the comparative analysis of the autoantibody single-positive and anti-SSA/SSc-specific autoantibody double-positive groups, the anti-SSA single-positive group showed a significantly increased risk of ILD (OR = 12.1; 95% CI, 2.13-140.57; P = 0.003). Furthermore, patients with SSc and anti-SSA indicated that anti-SSA-positive SSc without SS was strongly associated with dcSSc when compared to that in patients with SS (OR = 6.45; 95% CI, 1.23-32.60; P = 0.024). CONCLUSIONS Anti-SSA positivity increases the risk of organ involvement, such as ILD, in patients with SSc. Additionally, the anti-SSA-positive SSc without SS population may have more severe skin fibrosis than others. Anti-SSA may be a potential marker of ILD and skin severity in SSc.
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Affiliation(s)
- Tomoya Watanabe
- Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa- ku,Yokohama, 236-0004, Japan
| | - Yasushi Ototake
- Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa- ku,Yokohama, 236-0004, Japan
| | - Asami Akita
- Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa- ku,Yokohama, 236-0004, Japan
| | - Mao Suzuki
- Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa- ku,Yokohama, 236-0004, Japan
| | - Miwa Kanaoka
- Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa- ku,Yokohama, 236-0004, Japan
| | - Jun Tamura
- Department of Biostatistics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
| | - Yusuke Saigusa
- Department of Biostatistics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
| | - Yukie Yamaguchi
- Department of Environmental Immuno-Dermatology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa- ku,Yokohama, 236-0004, Japan.
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8
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Patel P, Marinock JM, Ajmeri A, Brent LH. A Review of Antisynthetase Syndrome-Associated Interstitial Lung Disease. Int J Mol Sci 2024; 25:4453. [PMID: 38674039 PMCID: PMC11050089 DOI: 10.3390/ijms25084453] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/15/2024] [Revised: 04/05/2024] [Accepted: 04/13/2024] [Indexed: 04/28/2024] Open
Abstract
Our objective in this review article is to present a clinical case of a patient with antisynthetase syndrome (ASyS) and provide an overview of the pathogenesis, classification criteria, antibody profiles, clinical features, and current knowledge of treatment options, focusing on interstitial lung disease (ILD). ASyS is an uncommon autoimmune disease with a heterogenous clinical presentation characterized by the presence of autoantibodies against an aminoacyl-tRNA synthetase and manifested by myositis, fever, inflammatory arthritis, Raynaud's phenomenon, mechanics hands, and ILD. ASyS-associated ILD (ASyS-ILD) is the most serious complication of ASyS, which may evolve to rapidly progressive ILD; therefore, it often requires thorough clinical and radiologic evaluation including recognition of a specific clinical phenotype associated with the antisynthetase antibodies (ASAbs) to guide therapeutic interventions.
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Affiliation(s)
- Puja Patel
- Section of Rheumatology, Temple University Hospital, Philadelphia, PA 19140, USA
| | - Jenna M. Marinock
- Department of Medicine, Temple University Hospital, Philadelphia, PA 19140, USA;
| | - Aamir Ajmeri
- Department of Thoracic Medicine, Temple University Hospital, Philadelphia, PA 19140, USA;
| | - Lawrence H. Brent
- Section of Rheumatology, Temple University Hospital, Philadelphia, PA 19140, USA
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9
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Banerjee A, Ranjan A, Kumar M, Kumar S, Bansal A, Mahto M. Antinuclear antibody (ANA) positivity pattern by line immunoassay in a hospital from eastern India: Update from a laboratory perspective. J Family Med Prim Care 2024; 13:1254-1261. [PMID: 38827670 PMCID: PMC11141993 DOI: 10.4103/jfmpc.jfmpc_1170_23] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/18/2023] [Revised: 09/05/2023] [Accepted: 09/21/2023] [Indexed: 06/04/2024] Open
Abstract
Context The existence of more than one antibody in systemic autoimmune rheumatic diseases (SARDs) or connective tissue disease (CTD) along with features of more than one autoimmune disease (AD) in an individual is suggestive of overlap syndrome (OS). Line immunoassay (LIA) can target many autoantibodies in a single approach, thus making the identification of OS feasible. Aims and Objectives This study aimed to identify the pattern of distribution of antinuclear antibodies by LIA prevalent in a hospital population in eastern India and identify common forms of SARD in this belt based on laboratory findings. Material and Methods A total of 1660 samples received for ANA profile testing by LIA were analysed. Statistical Analysis Factor analysis was performed with factor loading scores used in the k-means algorithm to identify clustering of various autoantibodies. Results U1-snRNP positivity was the highest at 16.69%, and the least frequent autoantibody noted was anti-Jo-1 at 0.71% positivity. Based on the outcome of factor analysis, three clusters were determined. Cluster 1 showed a predominance of anti-PM/Scl antibodies, cluster 2 showed a predominance of anti-dsDNA, anti-histone, anti-SmD1, anti-nucleosomes, anti-PCNA, anti-Po, anti-SSA/Ro52, anti-SSA-Ro60, anti-SSB/La, anti-Scl-70, anti-Mi-2, anti-Ku and anti-AMA-M2, and cluster 3 showed a predominance of anti-U1-snRNP. Conclusions Mixed connective tissue disease (MCTD) and overlap syndrome (OS) are prevalent more than pure form of an AD in our study population. OS may be missed out by monospecific immunoassays and hence adds to diagnostic challenges. LIA may be more useful in identifying specific autoantibodies by a single approach rather than monospecific immunoassays in populations after a positive screen by indirect immunofluorescence (IIF).
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Affiliation(s)
- Ayan Banerjee
- Department of Biochemistry, AIIMS Patna, Patna, Bihar, India
| | - Alok Ranjan
- Department of CFM, AIIMS Patna, Patna, Bihar, India
| | - Mukunda Kumar
- Department of Biochemistry, AIIMS Patna, Patna, Bihar, India
| | - Sushil Kumar
- Department of Biochemistry, AIIMS Patna, Patna, Bihar, India
| | - Akash Bansal
- Department of Biochemistry, AIIMS Patna, Patna, Bihar, India
| | - Mala Mahto
- Department of Biochemistry, AIIMS Patna, Patna, Bihar, India
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10
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Bass RD, Moore DF, Steen VD. Prevalence and Characteristics of Patients With Systemic Sclerosis Fulfilling the 2019 EULAR/American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus. Arthritis Care Res (Hoboken) 2024; 76:311-317. [PMID: 37691427 DOI: 10.1002/acr.25235] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2023] [Revised: 08/18/2023] [Accepted: 09/07/2023] [Indexed: 09/12/2023]
Abstract
OBJECTIVE There is limited literature describing the overlap of systemic sclerosis (SSc) and systemic lupus erythematosus (SLE), and the studies have employed a range of case definitions. Our study used the new EULAR/American College of Rheumatology (ACR) SLE classification criteria to define SSc-SLE cases among our center's SSc cohort. METHODS This is a single-center, retrospective study of a previously described cohort of patients with SSc. Patient data were re-abstracted to evaluate for fulfillment of the 2019 EULAR/ACR classification criteria for SLE. Demographic, laboratory, clinical features, and mortality were compared among patients with SSc-SLE and patients with SSc alone. RESULTS Among the 402 patients with SSc that were analyzed, 40 (10%) fulfilled the 2019 EULAR/ACR SLE classification criteria. Neuropsychiatric and renal involvement were rare. An initial SLE diagnosis was purported in 43% of the patients with SSc-SLE and 7% of patients with SSc alone (P < 0.001). Patients with SSc-SLE were more likely to be female, African American, and with limited cutaneous SSc. Anti-U1-RNP antibody positivity prevalence was 30% among patients with SSc-SLE and 6.6% among patients with SSc alone (P < 0.001). Death during follow-up occurred in 12 patients (30%) with SSc-SLE and in 81 patients (22%) with SSc alone, but there was no difference in survival among the groups per log rank test (P = 0.404). CONCLUSION Ten percent of patients with SSc fulfill the 2019 EULAR/ACR classification criteria for SLE. These patients comprise a distinct demographic, serologic, and clinical phenotype but have similar severe SSc-specific end-organ damage and mortality as patients with SSc alone. Patients with SLE with Raynaud phenomenon should be evaluated for SSc-specific autoantibodies and scleroderma organ involvement.
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Affiliation(s)
- Ronald D Bass
- Georgetown University School of Medicine, Washington, DC, and University of Texas Southwestern, Dallas
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11
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Cordoba-Hurtado AM, Fuentes-Mendez L, Perez-Navarro LM, Soto-Abraham V, Valdez-Ortiz R. Overlap Syndrome of Diffuse Systemic Sclerosis, Sjögren Syndrome, and ANCA-Associated Renal-Limited Vasculitis: Three Entities in One Patient - Case Report. Case Rep Nephrol Dial 2024; 14:48-55. [PMID: 38524730 PMCID: PMC10959543 DOI: 10.1159/000537873] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/20/2023] [Accepted: 02/13/2024] [Indexed: 03/26/2024] Open
Abstract
Introduction The presence of three different entities in a single patient is usually of clinical interest and mostly anecdotal. The overlap of systemic sclerosis (SSc), Sjögren syndrome (SS), and ANCA-associated renal-limited vasculitis has been reported only once previously. Case Presentation A 61-year-old female was evaluated at consultation with 2 years of symptomatology, presenting cardboard-like skin, sclerodactyly, limited oral opening, and dry skin and eyes. She was admitted for progressive renal failure (serum creatinine, 5.5 mg/dL). Her serology work-up showed positive anti-SCL-70, anti-Ro, anti-La, anti-MPO, and antinuclear antibodies. Renal biopsy was performed and confirmed histological findings for SSc, SS, and ANCA-associated vasculitis with active extracapillary glomerulonephritis with fibrous predominance (EUVAS-Berden sclerotic class), active tubulointerstitial nephritis, focal tubular injury, and moderate chronic arteriolopathy. Treatment with 6 monthly doses of methylprednisolone and cyclophosphamide was established. At the last follow-up, the patient maintained a stable serum creatinine level of 2.6 mg/dL and had decreased proteinuria, no erythrocyturia, and no requirement for renal replacement therapy. Conclusion Systemic sclerosis is a rare autoimmune disease; nevertheless, overlap with Sjögren syndrome is relatively common, although its association with ANCA vasculitis is anecdotal. Diagnostic integration presents a challenge for nephrologists to define the prognosis and a specific treatment.
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12
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Santiago S, Enwereji N, Jiang C, Durrani K, Chaudhry S, Lu J. Ocular and eyelid involvement in collagen vascular diseases. Part II. Dermatomyositis, scleroderma, and sarcoidosis. Clin Dermatol 2024; 42:9-16. [PMID: 37913844 DOI: 10.1016/j.clindermatol.2023.10.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/03/2023]
Abstract
Collagen vascular disease is a heterogeneous group of autoimmune diseases that affect multiple organ systems. Sjögren syndrome, dermatomyositis, scleroderma, systemic lupus erythematosus, and sarcoidosis are collagen vascular diseases that often present with characteristic cutaneous manifestations. Although less known, various ocular manifestations that affect both external and internal structures of the eye can also be seen in these conditions. Multidisciplinary management between dermatologists and ophthalmologists is essential in the early diagnosis and management of collagen vascular diseases affecting both the skin and eye. In part II of our series, we discuss the ocular manifestations, diagnosis, and therapeutic options of dermatomyositis, scleroderma, and sarcoidosis.
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Affiliation(s)
- Sueheidi Santiago
- Department of Dermatology, University of Connecticut Health Center, Farmington, Connecticut, USA
| | - Ndidi Enwereji
- Frank H. Netter MD School of Medicine at Quinnipiac University, North Haven, Connecticut, USA
| | - Christina Jiang
- University of Connecticut School of Medicine, Farmington, Connecticut, USA
| | - Khayyam Durrani
- Division of Ophthalmology, University of Connecticut School of Medicine, Farmington, Connecticut, USA
| | - Sona Chaudhry
- Division of Ophthalmology, University of Connecticut School of Medicine, Farmington, Connecticut, USA
| | - Jun Lu
- Department of Dermatology, University of Connecticut Health Center, Farmington, Connecticut, USA.
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13
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Palleti SK, Picken MM, Wadhwa A. Sjögren's Syndrome Overlap With Lupus Nephritis: A Case Report and Literature Review of a Rare Entity. Cureus 2023; 15:e38666. [PMID: 37288211 PMCID: PMC10243178 DOI: 10.7759/cureus.38666] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 05/06/2023] [Indexed: 06/09/2023] Open
Abstract
Overlap syndrome is a connective tissue disorder that satisfies the diagnostic criteria for at least two well-known autoimmune diseases. In this report, we describe a rare case of lupus overlap in an elderly woman with primary Sjögren's syndrome who presented with features of nephritic-nephrotic syndrome and renal biopsy results typical of lupus nephritis combined with multiple positive autoantibodies. The kidney biopsy results were assigned the highest weightage based on the revised 2019 systemic lupus erythematosus (SLE) classification criteria developed by the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR). The patient's condition significantly improved after appropriate immunosuppressive therapy was initiated. With the revised ACR/EULAR-2019 criteria, we anticipate that more SLE patients with typical lupus nephritis biopsy findings will be diagnosed accurately.
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Affiliation(s)
- Sujith K Palleti
- Department of Internal Medicine/Nephrology, Edward Hines Jr. Veterans Administration Hospital, Hines, USA
- Department of Internal Medicine/Nephrology, Loyola University Medical Center, Maywood, USA
| | - Maria M Picken
- Department of Pathology, Loyola University Medical Center, Maywood, USA
| | - Anuradha Wadhwa
- Department of Internal Medicine/Nephrology, Loyola University Medical Center, Maywood, USA
- Department of Internal Medicine/Nephrology, Edward Hines Jr. Veterans Administration Hospital, Hines, USA
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14
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Mohammed MJ, Hashim HT, Al‐Obaidi AD, Al Shammari A. A novel overlap syndrome: Rheumatoid arthritis, Sjogren's syndrome, antiphospholipid syndrome, and dermatomyositis. Clin Case Rep 2023; 11:e7274. [PMID: 37113639 PMCID: PMC10126753 DOI: 10.1002/ccr3.7274] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/09/2022] [Revised: 03/10/2023] [Accepted: 04/12/2023] [Indexed: 04/29/2023] Open
Abstract
Key Clinical Message This is an extremely rare case that has not been presented or discussed in the literature to the best of our knowledge. The overlap of connective tissue disease is a challenge for physicians and patients, and it needs special care and regular clinical and laboratory follow-up. Abstract This report describes a rare case of overlapping connective tissue diseases in a 42-year-old female with rheumatoid arthritis, Sjogren's syndrome, antiphospholipid syndrome, and dermatomyositis. The patient presented with a hyperpigmented erythematous rash, muscle weakness, and pain, highlighting the challenges of diagnosis and treatment that require regular clinical and laboratory follow-up.
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Affiliation(s)
- Maab Jasim Mohammed
- Rheumatology Unit, Department of Internal MedicineAl Nu'man Teaching HospitalBaghdadIraq
| | | | | | - Assim Al Shammari
- Respiratory Unit, Department of Internal MedicineAl Yarmouk Teaching HospitalBaghdadIraq
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15
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Gonçalves Júnior J, Mugii N, Tiharu Inaoka P, Miossi R, De Souza FHC, De Oliveira JCS, Someya F, Hamaguchi Y, Matsushita T, Sampaio-Barros PD, Katsuyuki Shinjo S. Patients with inflammatory myopathies overlapping with systemic sclerosis: A Brazilian-Japanese bicentric study. Arch Rheumatol 2023; 38:138-147. [PMID: 37235128 PMCID: PMC10208608 DOI: 10.46497/archrheumatol.2023.9597] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2022] [Accepted: 04/25/2022] [Indexed: 10/20/2023] Open
Abstract
Objectives This study aims to describe and compare the demographic, clinical, and laboratory characteristics and follow-up of representative samples of patients with myopathies and systemic sclerosis overlap syndromes (Myo-SSc) from two tertiary centers. Patients and methods This is a cross-sectional and retrospective study conducted between January 2000 and December 2020. Fourty-five patients were analyzed with Myo-SSc (6 males, 39 females; mean age: 50.2±15.4 years; range, 45 to 65 years) from two tertiary centers (n=30 from Brazil and n=15 from Japan). Results The median follow-up was 98 (range, 37 to 168) months. Muscle impairment started simultaneously with the diagnosis of systemic sclerosis in 57.8% (26/45) of cases. Muscle involvement occurred before the onset of systemic sclerosis in 35.5% (16/45) of cases, and after in 6.7% (3/45). Polymyositis was observed in 55.6% (25/45) of cases, followed by dermatomyositis in 24.4% (11/45) and antisynthetase syndrome in 20.0% (9/45). Concerning systemic sclerosis, the diffuse and limited forms occurred in 64.4% (29/45) and 35.6% (16/45) of the cases, respectively. Comparing the subgroups, Myo or SSc onset was earlier in Brazilian patients, and they had a higher frequency of dysphagia (20/45, [66.7%]) and digital ulcers (27/45, [90%]), whereas Japanese patients had higher modified Rodnan skin scores (15 [9 to 23]) and prevalence of positive anti-centromere antibodies (4/15 [23.7%]). The current disease status and mortality were similar in both groups. Conclusion In the present study, Myo-SSc affected middle-aged women, and its manifestation spectrum varied according to geographic distribution.
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Affiliation(s)
| | - Naoki Mugii
- Department of Rehabilitation, Kanazawa University Hospital, Ishikawa, Japan
| | - Pleiades Tiharu Inaoka
- Kanazawa University, Division of Rehabilitation Science, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Ishikawa, Japan
| | - Renata Miossi
- Division of Rheumatology, Universidade De São Paulo, São Paulo, Brazil
| | | | | | - Fujiko Someya
- Kanazawa University, Division of Rehabilitation Science, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Ishikawa, Japan
| | - Yasuhito Hamaguchi
- Department of Dermatology, Kanazawa University, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Ishikawa, Japan
| | - Takashi Matsushita
- Department of Dermatology, Kanazawa University, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Ishikawa, Japan
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16
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Felten R, Meyer A, Gottenberg JE. Non-primary Sjogren's Syndrome: Secondary or associated? Joint Bone Spine 2023; 90:105502. [PMID: 36464213 DOI: 10.1016/j.jbspin.2022.105502] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/29/2022] [Indexed: 12/03/2022]
Affiliation(s)
- Renaud Felten
- Service de rhumatologie, centre national de référence des maladies autoimmunes et systémiques rares (CNR RESO), laboratoire d'immunopathologie et de chimie thérapeutique, institut de biologie moléculaire et cellulaire (IBMC), CNRS UPR3572, hôpital de Hautepierre, 1, avenue Molière, BP 83049, 67098 Strasbourg Cedex, France
| | - Alain Meyer
- Service d'exploration fonctionnelle musculaire, service de rhumatologie, centre national de référence des maladies autoimmunes et systémiques rares (CNR RESO), hôpital de Hautepierre, 1, avenue Molière, BP 83049, 67098 Strasbourg cedex, France
| | - Jacques-Eric Gottenberg
- Service de rhumatologie, centre national de référence des maladies autoimmunes et systémiques rares (CNR RESO), laboratoire d'immunopathologie et de chimie thérapeutique, institut de biologie moléculaire et cellulaire (IBMC), CNRS UPR3572, hôpital de Hautepierre, 1, avenue Molière, BP 83049, 67098 Strasbourg Cedex, France.
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Kayser C, Victória de Oliveira Martins L. Treatment of Inflammatory Arthritis in Systemic Sclerosis. Rheum Dis Clin North Am 2023; 49:337-343. [PMID: 37028838 DOI: 10.1016/j.rdc.2023.01.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/05/2023]
Abstract
Joint involvement, including arthralgia, inflammatory arthritis, joint contractures and overlapping with rheumatoid arthritis, is a common manifestation and is associated with impared quality of life in systemic sclerosis (SSc). Few studies have evaluated the treatment of arthritis in SSc. Pharmacological approach includes low-dose corticosteroids, methotrexate, and hydroxychloroquine. Non-tumor necrosis factor biologics, especially rituximab and tocilizumab, may be a promising option for refractory cases.
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Affiliation(s)
- Cristiane Kayser
- Rheumatology Division, Escola Paulista de Medicina, Federal University of São Paulo (UNIFESP), Rua Botucatu 740, 3 andar, São Paulo, São Paulo 04023-062, Brazil.
| | - Lucas Victória de Oliveira Martins
- Rheumatology Division, Escola Paulista de Medicina, Federal University of São Paulo (UNIFESP), Rua Botucatu 740, 3 andar, São Paulo, São Paulo 04023-062, Brazil
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18
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Nayebirad S, Ramandi A, Nili F, Atef-Yekta R, Tamartash Z, Salehi S, Kavosi H. Glomerulonephritis associated with systemic sclerosis: a case report. J Med Case Rep 2023; 17:49. [PMID: 36755329 PMCID: PMC9906579 DOI: 10.1186/s13256-022-03727-7] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/14/2022] [Accepted: 12/14/2022] [Indexed: 02/10/2023] Open
Abstract
BACKGROUND Systemic sclerosis is a multiorgan autoimmune disease that can overlap with other rheumatologic disorders; however, co-occurrence with antineutrophil cytoplasmic antibody-associated vasculitis is rare. CASE PRESENTATION A 39-year-old Persian female patient with systemic sclerosis according to American College of Rheumatology/European League Against Rheumatism 2013 criteria with a disease duration of 6 years was admitted to the hospital due to a rise in creatinine level in July 2021. She had complaints of nasal speech and feeling of nasal perforation. The first symptoms of antineutrophil cytoplasmic antibody-associated vasculitis had started 5 years earlier with palpable purpura in the lower limbs, hemoptysis, and positive perinuclear (p)-antibody-associated vasculitis level (> 300 AU/mL). Still, the diagnosis was not achieved due to the patient's reluctance to undergo a biopsy. She was treated with azathioprine (150 mg/day) and prednisolone (10 mg/day) during the 5-year follow-up. Her renal biopsy results showed cortical renal tissue with a cellular crescent in more than 50% of the specimen, rupture of the Bowman capsule and the glomerular basement membrane, peri-glomerular inflammation, and mild tubular atrophy in microscopic examinations. The immunofluorescence study resulted in a granular pattern of immune deposits along the glomerular basement membrane, mesangial tissue, and tubular basement membranes. CONCLUSION We reported a rare case of comorbid systemic sclerosis and antineutrophil cytoplasmic antibody-associated vasculitis with nasal perforation. Her renal biopsy showed immune deposits along the glomerular basement membrane, mesangial tissue, and tubular basement membranes. Overlapping with other collagen vascular diseases can occur in rheumatology patients with uncommon manifestations. In systemic sclerosis, renal involvement in the form of glomerulonephritis is infrequent, and comorbid systemic lupus erythematosus or antineutrophil cytoplasmic antibody-associated vasculitis should be considered.
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Affiliation(s)
- Sepehr Nayebirad
- grid.411705.60000 0001 0166 0922Students’ Scientific Research Center (SSRC), Tehran University of Medical Sciences, Tehran, Iran
| | - Alireza Ramandi
- grid.411705.60000 0001 0166 0922School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
| | - Fatemeh Nili
- grid.414574.70000 0004 0369 3463Department of Pathology, Cancer Institute, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
| | - Reza Atef-Yekta
- grid.411705.60000 0001 0166 0922Department of Anaesthesiology,, Tehran University of Medical Sciences, Tehran, Iran
| | - Zahra Tamartash
- grid.411705.60000 0001 0166 0922Rheumatology Research Center, Tehran University of Medical Science, P.O. Box 1411713137, Tehran, Iran
| | - Samira Salehi
- grid.411705.60000 0001 0166 0922Rheumatology Research Center, Tehran University of Medical Science, P.O. Box 1411713137, Tehran, Iran
| | - Hoda Kavosi
- Rheumatology Research Center, Tehran University of Medical Science, P.O. Box 1411713137, Tehran, Iran.
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19
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Clark KEN. Review of systemic sclerosis and antineutrophil cytoplasmic antibody vasculitis overlap: Using autoantibodies for a personalised medicine approach. JOURNAL OF SCLERODERMA AND RELATED DISORDERS 2023; 8:7-13. [PMID: 36743820 PMCID: PMC9896200 DOI: 10.1177/23971983221126850] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/08/2022] [Accepted: 08/31/2022] [Indexed: 11/17/2022]
Abstract
Both antineutrophil cytoplasmic antibody-associated vasculitis and systemic sclerosis are rare autoimmune diseases. Both have the potential for significant multi-organ involvement, and both carry high morbidity and mortality. Disease-specific autoantibodies in these conditions allow for risk stratification for organ-based complications, and for personalised therapeutic strategies. The concomitant presentation of antineutrophil cytoplasmic antibody-associated vasculitis and systemic sclerosis is rare, and only reported in up to 1.3% of systemic sclerosis cases. These patients present more frequently with anti-myeloperoxidase and anti-topoisomerase antibody profiles, with increased incidence of interstitial lung disease and renal involvement than would be expected in either disease independently. Appreciating the role of the autoantibodies in each disease state, and where they overlap, allows for the potential of a more personalised approach to managing these complex patients.
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Chew E, Barnado A, Ikizler TA, Zent R, Frech T. Evaluation of hypertension in systemic sclerosis and systemic lupus erythematosus overlap. JOURNAL OF SCLERODERMA AND RELATED DISORDERS 2023; 8:14-19. [PMID: 36743818 PMCID: PMC9896192 DOI: 10.1177/23971983221122673] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/14/2022] [Accepted: 08/08/2022] [Indexed: 11/16/2022]
Abstract
Patients with systemic sclerosis and systemic lupus erythematosus serologies present a unique challenge to the clinician when hypertension is detected in the outpatient setting. Treatment choices for non-renal crisis hypertension are different for systemic sclerosis versus systemic lupus erythematosus. Urgent laboratory studies and, in the presence of certain symptoms, imaging assessment are indicated in systemic sclerosis and systemic lupus erythematosus overlap patients with systemic hypertension. Long-term assessment of systemic hypertension may be enhanced by advances in non-contrast imaging that serve as valuable biomarkers for progressive vasculopathy. In this review, the diagnostic approach to systemic sclerosis and systemic lupus erythematosus overlap patients presenting with hypertension is discussed.
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Affiliation(s)
- Erin Chew
- Division of Rheumatology and
Immunology, Department of Medicine, Vanderbilt University Medical Center, Nashville,
TN, USA
| | - April Barnado
- Division of Rheumatology and
Immunology, Department of Medicine, Vanderbilt University Medical Center, Nashville,
TN, USA
| | - Talat Alp Ikizler
- Division of Nephrology and
Hypertension, Department of Medicine, Vanderbilt University Medical Center,
Nashville, TN, USA
- Veterans Affair Medical Center,
Tennessee Valley Healthcare System, Nashville, TN, USA
| | - Roy Zent
- Division of Nephrology and
Hypertension, Department of Medicine, Vanderbilt University Medical Center,
Nashville, TN, USA
- Veterans Affair Medical Center,
Tennessee Valley Healthcare System, Nashville, TN, USA
| | - Tracy Frech
- Division of Rheumatology and
Immunology, Department of Medicine, Vanderbilt University Medical Center, Nashville,
TN, USA
- Veterans Affair Medical Center,
Tennessee Valley Healthcare System, Nashville, TN, USA
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21
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Giannini M, Ellezam B, Leclair V, Lefebvre F, Troyanov Y, Hudson M, Senécal JL, Geny B, Landon-Cardinal O, Meyer A. Scleromyositis: A distinct novel entity within the systemic sclerosis and autoimmune myositis spectrum. Implications for care and pathogenesis. Front Immunol 2023; 13:974078. [PMID: 36776390 PMCID: PMC9910219 DOI: 10.3389/fimmu.2022.974078] [Citation(s) in RCA: 14] [Impact Index Per Article: 7.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/20/2022] [Accepted: 12/19/2022] [Indexed: 01/27/2023] Open
Abstract
Systemic sclerosis and autoimmune myositis are both associated with decreased quality of life and increased mortality. Their prognosis and management largely depend on the disease subgroups. Indeed, systemic sclerosis is a heterogeneous disease, the two predominant forms of the disease being limited and diffuse scleroderma. Autoimmune myositis is also a heterogeneous group of myopathies that classically encompass necrotizing myopathy, antisynthetase syndrome, dermatomyositis and inclusion body myositis. Recent data revealed that an additional disease subset, denominated "scleromyositis", should be recognized within both the systemic sclerosis and the autoimmune myositis spectrum. We performed an in-depth review of the literature with the aim of better delineating scleromyositis. Our review highlights that this concept is supported by recent clinical, serological and histopathological findings that have important implications for patient management and understanding of the disease pathophysiology. As compared with other subsets of systemic sclerosis and autoimmune myositis, scleromyositis patients can present with a characteristic pattern of muscle involvement (i.e. distribution of muscle weakness) along with multisystemic involvement, and some of these extra-muscular complications are associated with poor prognosis. Several autoantibodies have been specifically associated with scleromyositis, but they are not currently integrated in diagnostic and classification criteria for systemic sclerosis and autoimmune myositis. Finally, striking vasculopathic lesions at muscle biopsy have been shown to be hallmarks of scleromyositis, providing a strong anatomopathological substratum for the concept of scleromyositis. These findings bring new insights into the pathogenesis of scleromyositis and help to diagnose this condition, in patients with subtle SSc features and/or no autoantibodies (i.e. "seronegative" scleromyositis). No guidelines are available for the management of these patients, but recent data are showing the way towards a new therapeutic approach dedicated to these patients.
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Affiliation(s)
- Margherita Giannini
- Service de Physiologie et explorations fonctionnelles, University Hospital of Strasbourg, Strasbourg, France
- Centre de Référence des Maladies Autoimmunes Rares, University Hospital of Strasbourg, Strasbourg, France
- Unité de Recherche 3072 (UR3072), Centre de Recherche en Biomédecine, University of Strasbourg, Strasbourg, France
| | - Benjamin Ellezam
- Division of Pathology, Centre Hospitalier Universitaire (CHU) Sainte-Justine, Department of Pathology and Cell Biology, Université de Montréal, Montréal, QC, Canada
| | - Valérie Leclair
- Division of Rheumatology, Jewish General Hospital, Department of Medicine, McGill University, Montréal, QC, Canada
| | - Frédéric Lefebvre
- Division of Rheumatology, Centre Hospitalier de l'Université de Montréal (CHUM), Autoimmunity Research Laboratory, CHUM Research Center, Montréal, QC, Canada
- Department of Medicine, Université de Montréal, Montréal, QC, Canada
| | - Yves Troyanov
- Division of Rheumatology, Hôpital du Sacré-Coeur, Department of Medicine, Université de Montréal, Montréal, QC, Canada
| | - Marie Hudson
- Division of Rheumatology, Jewish General Hospital, Department of Medicine, McGill University, Montréal, QC, Canada
| | - Jean-Luc Senécal
- Division of Rheumatology, Centre Hospitalier de l'Université de Montréal (CHUM), Autoimmunity Research Laboratory, CHUM Research Center, Montréal, QC, Canada
- Department of Medicine, Université de Montréal, Montréal, QC, Canada
| | - Bernard Geny
- Service de Physiologie et explorations fonctionnelles, University Hospital of Strasbourg, Strasbourg, France
- Unité de Recherche 3072 (UR3072), Centre de Recherche en Biomédecine, University of Strasbourg, Strasbourg, France
| | - Océane Landon-Cardinal
- Division of Rheumatology, Centre Hospitalier de l'Université de Montréal (CHUM), Autoimmunity Research Laboratory, CHUM Research Center, Montréal, QC, Canada
- Department of Medicine, Université de Montréal, Montréal, QC, Canada
| | - Alain Meyer
- Service de Physiologie et explorations fonctionnelles, University Hospital of Strasbourg, Strasbourg, France
- Unité de Recherche 3072 (UR3072), Centre de Recherche en Biomédecine, University of Strasbourg, Strasbourg, France
- Service de rhumatologie, Centre de Référence des Maladies Autoimmunes Rares, University Hospital of Strasbourg, Strasbourg, France
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22
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Foeldvari I, Klotsche J, Kasapcopur O, Adrovic A, Terreri MT, Sakamoto AP, Stanevicha V, Sztajnbok F, Anton J, Feldman B, Alexeeva E, Katsicas M, Smith V, Avcin T, Marrani E, Kostik M, Lehman T, Sifuentes-Giraldo WA, Vasquez-Canizares N, Appenzeller S, Janarthanan M, Moll M, Nemcova D, Patwardhan A, Santos MJ, Sawhney S, Schonenberg-Meinema D, Battagliotti C, Berntson L, Bica B, Brunner J, Costa-Reis P, Eleftheriou D, Harel L, Horneff G, Kaiser D, Kallinich T, Lazarevic D, Minden K, Nielsen S, Nuruzzaman F, Uziel Y, Helmus N, Torok KS. Differences Sustained Between Diffuse and Limited Forms of Juvenile Systemic Sclerosis in an Expanded International Cohort. Arthritis Care Res (Hoboken) 2022; 74:1575-1584. [PMID: 33787070 DOI: 10.1002/acr.24609] [Citation(s) in RCA: 14] [Impact Index Per Article: 4.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2020] [Revised: 03/01/2021] [Accepted: 03/25/2021] [Indexed: 11/10/2022]
Abstract
OBJECTIVE To evaluate the baseline clinical characteristics of juvenile systemic sclerosis (SSc) patients in the international juvenile SSc inception cohort, and to compare these characteristics between the classically defined juvenile diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) subtypes and among those with overlap features. METHODS A cross-sectional study was performed using baseline visit data. Information on demographic characteristics, organ system evaluation, treatment, and patient- and physician-reported outcomes was extracted and summary statistics applied. Comparisons between juvenile dcSSc and lcSSc subtypes and patients with and without overlap features were performed using chi-square and Mann-Whitney U tests. RESULTS At data extraction, 150 juvenile SSc patients were enrolled across 42 centers; 83% were White, 80% were female, juvenile dcSSc predominated (72%), and 17% of the cohort had overlap features. Significant differences were found between juvenile dcSSc and juvenile lcSSc regarding modified Rodnan skin thickness score, the presence of Gottron's papules, digital tip ulceration, results of the 6-minute walk test, and composite pulmonary and cardiac involvement. All of these were more frequent in dcSSc except for cardiac involvement. Juvenile dcSSc patients had significantly worse scores for physician-rated disease activity and damage. A significantly higher occurrence of Gottron's papules and musculoskeletal and composite pulmonary involvement, and a significantly lower frequency of Raynaud's phenomenon, were seen in those with overlap features. CONCLUSION Results from a large international juvenile SSc cohort demonstrate significant differences between juvenile dcSSc and juvenile lcSSc patients, including more globally severe disease and increased frequency of interstitial lung disease in juvenile dcSSc patients, while those with lcSSc have more frequent cardiac involvement. Those with overlap features had an unexpected higher frequency of interstitial lung disease.
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Affiliation(s)
- Ivan Foeldvari
- Hamburg Centre for Pediatric and Adolescent Rheumatology, Schön Klinik Hamburg Eilbek, Hamburg, Germany
| | | | - Ozgur Kasapcopur
- Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey
| | - Amra Adrovic
- Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey
| | | | | | - Valda Stanevicha
- Riga Stradins University, University Children Hospital, Riga, Latvia
| | | | - Jordi Anton
- Hospital Sant Joan de Déu, Esplugues, Universitat de Barcelona, Barcelona, Spain
| | - Brian Feldman
- SickKids, The Hospital for Sick Children, Toronto, Ontario, Canada
| | - Ekaterina Alexeeva
- National Medical Research Center of Children's Health, Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation, Moscow, Russia
| | - Maria Katsicas
- Hospital de Pediatria J. P. Garrahan, Buenos Aires, Argentina
| | - Vanessa Smith
- Ghent University and Ghent University Hospital, Ghent, Belgium
| | - Tadej Avcin
- University Children's Hospital University Medical Center Ljubljana, Ljubljana, Slovenia
| | | | - Mikhail Kostik
- Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russia
| | | | | | | | | | | | | | | | | | | | | | - Dieneke Schonenberg-Meinema
- Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
| | | | | | - Blanca Bica
- Hospital Universitário Clementino Fraga Filho and Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
| | | | | | | | - Liora Harel
- Schneider Children's Medical Center of Israel Sackler Faculty of Medicine, Tel Aviv University, Petah-Tikva, Israel
| | - Gerd Horneff
- Asklepios Klnik Sankt Augustin, Sankt Augustin, Germany
| | - Daniela Kaiser
- Luzerner Kantonsspital, Kinderspital, Luzern, Switzerland
| | - Tilmann Kallinich
- Charité University Medicine and German Rheumatism Research Center Berlin, Berlin, Germany
| | | | - Kirsten Minden
- Charité University Medicine and German Rheumatism Research Center Berlin, Berlin, Germany
| | | | | | - Yosef Uziel
- Meir Medical Center, Kfar Saba, Tel Aviv University, Tel Aviv, Israel
| | - Nicola Helmus
- Hamburg Centre for Pediatric and Adolescent Rheumatology, Schön Klinik Hamburg Eilbek, Hamburg, Germany
| | - Kathryn S Torok
- University of Pittsburgh, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
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23
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Speidel J, Hunzelmann N, Moinzadeh P. Sklerodermie – „die harte
Haut“. AKTUEL RHEUMATOL 2022. [DOI: 10.1055/a-1887-5399] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/15/2022]
Abstract
ZusammenfassungUnter dem Begriff Sklerodermie ist eine heterogene Gruppe von Erkrankungen
zusammengefasst, die eine kutane Sklerose gemeinsam haben. Die einzelnen
Erkrankungen variieren in der Beteiligung betroffener Strukturen wie Haut,
Fettgewebe, Muskulatur, Gelenkstrukturen, Knochen, innerer Organe und der damit
einhergehenden Krankheitsausprägung. Es lassen sich
grundsätzlich zwei verschiedene Subtypen unterscheiden: die lokalisierte
Sklerodermie (LoS) und die systemische Sklerose (SSc), die sich jeweils in
weitere Subgruppen unterteilen lassen. Es handelt sich um zwei verschiedene
Erkrankungen, die sich in der Ausprägung der Hautsklerosierung, der
Beteiligung innerer Organe, im Antikörper-Profil, im
Krankheitsmanagement sowie der Prognose unterscheiden. Darüber hinaus
gibt es Krankheitsbilder, die eine Sklerodermie imitieren und daher als
sklerodermie-artige Erkrankungen oder auch als Pseudosklerodermien bezeichnet
werden. Um die richtige Diagnose stellen zu können, ist ein
standardisiertes diagnostisches Vorgehen bedeutsam. Die frühe
Diagnosestellung ist wichtig, um frühzeitige eine Therapie einleiten zu
können, und so funktionelle kutane und extrakutane
Einschränkungen und auch kosmetische Schäden gering halten zu
können.
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Affiliation(s)
- Jil Speidel
- Uniklinik Köln, Klinik und Poliklinik für Dermatologie
und Venerologie, Köln
| | - Nicolas Hunzelmann
- Uniklinik Köln, Klinik und Poliklinik für Dermatologie
und Venerologie, Köln
| | - Pia Moinzadeh
- Uniklinik Köln, Klinik und Poliklinik für Dermatologie
und Venerologie, Köln
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24
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Clark KEN, Campochiaro C, Host LV, Sari A, Harvey J, Denton CP, Ong VH. Combinations of scleroderma hallmark autoantibodies associate with distinct clinical phenotypes. Sci Rep 2022; 12:11212. [PMID: 35780179 PMCID: PMC9250530 DOI: 10.1038/s41598-022-15062-4] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/22/2022] [Accepted: 06/17/2022] [Indexed: 11/09/2022] Open
Abstract
Systemic sclerosis (SSc) is characterized by the presence of SSc-specific or SSc-associated antibodies (SSc-Abs): anti-topoisomerase I (ATA), anti-centromere (ACA), anti-RNA polymerase III (ARA), anti-U3RNP (U3RNP), anti-U1RNP (U1RNP), anti-PmScl (PmScl), anti-Ku (Ku) and anti-Th/To (Th/To), each being associated with specific clinical features and prognosis. The detection of more than one SSc-Abs in SSc patients is rare and only few data about these patients' clinical phenotype is available. The aim of our study was to evaluate the frequency and the disease's features associated with the presence of > 1 SSc-Abs positivity in a large cohort of SSc patients. The autoantibody profiles of 2799 SSc patients from February 2001 to June 2017 were retrospectively reviewed. Patients with > 1 SSc-Abs were identified. Clinical features were collected and compared to a large historical cohort of SSc patients with single SSc-Ab positivity. SSc patients were excluded if previously treated with rituximab, intravenous immunoglobulins or stem cell transplantation. Non-parametric tests were used for statistical analysis. Nearly 5% of SSc patients from our cohort had ≥ 2 autoantibody positivity, and 2.3% (n = 72) had ≥ 2 SSc-Abs positivity. Th e most common combination was U1RNP and ATA (35%). These patients were younger than patients with single autoantibody positivity and showed more commonly a diffuse cutaneous SSc form. They also had higher rates of overlap features compared to ATA patients. Other combinations included U1RNP and ACA (13%), ATA and ACA (7%) and U1RNP and PmScl (5%). In our study we observed that, while infrequently, SSc patients can present with a combination of two SSc-Abs and that the double positivity can influence their clinical phenotype compared to patients with single SSc-Ab positivity. The importance of re-testing SSc-Abs in patients with changing clinical phenotypes was also highlighted, as this may confer a differing risk stratification.
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Affiliation(s)
- Kristina E N Clark
- Centre for Rheumatology and Connective Tissue Diseases, Division of Medicine, University College London, London, UK
| | - Corrado Campochiaro
- Centre for Rheumatology and Connective Tissue Diseases, Division of Medicine, University College London, London, UK
- Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy
| | - Lauren V Host
- Centre for Rheumatology and Connective Tissue Diseases, Division of Medicine, University College London, London, UK
| | - Alper Sari
- Centre for Rheumatology and Connective Tissue Diseases, Division of Medicine, University College London, London, UK
- Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Ankara, Turkey
| | - Jennifer Harvey
- Centre for Rheumatology and Connective Tissue Diseases, Division of Medicine, University College London, London, UK
| | - Christopher P Denton
- Centre for Rheumatology and Connective Tissue Diseases, Division of Medicine, University College London, London, UK
| | - Voon H Ong
- Centre for Rheumatology and Connective Tissue Diseases, Division of Medicine, University College London, London, UK.
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25
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Maciejewska M, Sikora M, Maciejewski C, Alda-Malicka R, Czuwara J, Rudnicka L. Raynaud's Phenomenon with Focus on Systemic Sclerosis. J Clin Med 2022; 11:jcm11092490. [PMID: 35566614 PMCID: PMC9105786 DOI: 10.3390/jcm11092490] [Citation(s) in RCA: 13] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/15/2022] [Revised: 04/26/2022] [Accepted: 04/27/2022] [Indexed: 02/01/2023] Open
Abstract
Raynaud’s phenomenon is a painful vascular condition in which abnormal vasoconstriction of the digital arteries causes blanching of the skin. The treatment approach can vary depending on the underlying cause of disease. Raynaud’s phenomenon can present as a primary symptom, in which there is no evidence of underlying disease, or secondary to a range of medical conditions or therapies. Systemic sclerosis is one of the most frequent causes of secondary Raynaud’s phenomenon; its appearance may occur long before other signs and symptoms. Timely, accurate identification of secondary Raynaud’s phenomenon may accelerate a final diagnosis and positively alter prognosis. Capillaroscopy is fundamental in the diagnosis and differentiation of primary and secondary Raynaud’s phenomenon. It is helpful in the very early stages of systemic sclerosis, along with its role in disease monitoring. An extensive range of pharmacotherapies with various routes of administration are available for Raynaud’s phenomenon but a standardized therapeutic plan is still lacking. This review provides insight into recent advances in the understanding of Raynaud’s phenomenon pathophysiology, diagnostic methods, and treatment approaches.
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Affiliation(s)
- Magdalena Maciejewska
- Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland; (M.M.); (R.A.-M.); (J.C.); (L.R.)
| | - Mariusz Sikora
- National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartańska 1, 02-637 Warsaw, Poland
- Correspondence:
| | - Cezary Maciejewski
- 1st Department of Cardiology, Medical University of Warsaw, 02-091 Warsaw, Poland;
| | - Rosanna Alda-Malicka
- Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland; (M.M.); (R.A.-M.); (J.C.); (L.R.)
| | - Joanna Czuwara
- Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland; (M.M.); (R.A.-M.); (J.C.); (L.R.)
| | - Lidia Rudnicka
- Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland; (M.M.); (R.A.-M.); (J.C.); (L.R.)
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26
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Inflammatory myopathies overlapping with systemic sclerosis: a systematic review. Clin Rheumatol 2022; 41:1951-1963. [DOI: 10.1007/s10067-022-06115-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/10/2021] [Revised: 02/20/2022] [Accepted: 02/21/2022] [Indexed: 11/03/2022]
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27
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Zhao L, Xie S, Zhou B, Shen C, Li L, Pi W, Gong Z, Zhao J, Peng Q, Zhou J, Peng J, Zhou Y, Zou L, Song L, Zhu H, Luo H. Machine Learning Algorithms Identify Clinical Subtypes and Cancer in Anti-TIF1γ+ Myositis: A Longitudinal Study of 87 Patients. Front Immunol 2022; 13:802499. [PMID: 35237262 PMCID: PMC8883045 DOI: 10.3389/fimmu.2022.802499] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2021] [Accepted: 01/20/2022] [Indexed: 01/09/2023] Open
Abstract
BackgroundAnti-TIF1γ antibodies are a class of myositis-specific antibodies (MSAs) and are closely associated with adult cancer-associated myositis (CAM). The heterogeneity in anti-TIF1γ+ myositis is poorly explored, and whether anti-TIF1γ+ patients will develop cancer or not is unknown at their first diagnosis. Here, we aimed to explore the subtypes of anti-TIF1γ+ myositis and construct machine learning classifiers to predict cancer in anti-TIF1γ+ patients based on clinical features.MethodsA cohort of 87 anti-TIF1γ+ patients were enrolled and followed up in Xiangya Hospital from June 2017 to June 2021. Sankey diagrams indicating temporal relationships between anti-TIF1γ+ myositis and cancer were plotted. Elastic net and random forest were used to select and rank the most important variables. Multidimensional scaling (MDS) plot and hierarchical cluster analysis were performed to identify subtypes of anti-TIF1γ+ myositis. The clinical characteristics were compared among subtypes of anti-TIF1γ+ patients. Machine learning classifiers were constructed to predict cancer in anti-TIF1γ+ myositis, the accuracy of which was evaluated by receiver operating characteristic (ROC) curves.ResultsForty-seven (54.0%) anti-TIF1γ+ patients had cancer, 78.7% of which were diagnosed within 0.5 years of the myositis diagnosis. Fourteen variables contributing most to distinguishing cancer and non-cancer were selected and used for the calculation of the similarities (proximities) of samples and the construction of machine learning classifiers. The top 10 were disease duration, percentage of lymphocytes (L%), percentage of neutrophils (N%), neutrophil-to-lymphocyte ratio (NLR), sex, C-reactive protein (CRP), shawl sign, arthritis/arthralgia, V-neck sign, and anti-PM-Scl75 antibodies. Anti-TIF1γ+ myositis patients can be clearly separated into three clinical subtypes, which correspond to patients with low, intermediate, and high cancer risk, respectively. Machine learning classifiers [random forest, support vector machines (SVM), extreme gradient boosting (XGBoost), elastic net, and decision tree] had good predictions for cancer in anti-TIF1γ+ myositis patients. In particular, the prediction accuracy of random forest was >90%, and decision tree highlighted disease duration, NLR, and CRP as critical clinical parameters for recognizing cancer patients.ConclusionAnti-TIF1γ+ myositis can be separated into three distinct subtypes with low, intermediate, and high risk of cancer. Machine learning classifiers constructed with clinical characteristics have favorable performance in predicting cancer in anti-TIF1γ+ myositis, which can help physicians in choosing appropriate cancer screening programs.
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Affiliation(s)
- Lijuan Zhao
- Department of Rheumatology, Xiangya Hospital of Central South University, Changsha, China
- National Clinical Research Center for Geriatric Disorders, Xiangya Hospital of Central South University, Changsha, China
- Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital of Central South University, Changsha, China
| | - Shuoshan Xie
- Department of Nephrology, Hunan Provincial People’s Hospital and The First Affiliated Hospital of Hunan Normal University, Changsha, China
| | - Bin Zhou
- Department of Nephrology, The Affiliated Hospital of Qingdao University, Qingdao, China
| | - Chuyu Shen
- Department of Rheumatology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
| | - Liya Li
- Department of Rheumatology, The Third Xiangya Hospital of Central South University, Changsha, China
| | - Weiwei Pi
- Department of Oncology, The First People’s Hospital of Changde City, Changde, China
| | - Zhen Gong
- Department of Rheumatology, Yiyang Central Hospital, Yiyang, China
| | - Jing Zhao
- Department of Rheumatology, The First Affiliated Hospital of Jishou University, Jishou, China
| | - Qi Peng
- Department of Rheumatology, Yueyang People’s Hospital, Yueyang, China
| | - Junyu Zhou
- Department of Rheumatology, Xiangya Hospital of Central South University, Changsha, China
- National Clinical Research Center for Geriatric Disorders, Xiangya Hospital of Central South University, Changsha, China
- Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital of Central South University, Changsha, China
| | - Jiaqi Peng
- Huaihua No.1 People’s Hospital Affiliated to Nanhua University, Huaihua, China
| | - Yan Zhou
- Department of Obstetrics and Gynecology, Zhuzhou Central Hospital, Zhuzhou, China
| | - Lingxiao Zou
- Department of Obstetrics and Gynecology, The Third Xiangya Hospital of Central South University, Changsha, China
| | - Liang Song
- Huaihua No.1 People’s Hospital Affiliated to Nanhua University, Huaihua, China
| | - Honglin Zhu
- Department of Rheumatology, Xiangya Hospital of Central South University, Changsha, China
- National Clinical Research Center for Geriatric Disorders, Xiangya Hospital of Central South University, Changsha, China
- Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital of Central South University, Changsha, China
- *Correspondence: Honglin Zhu, ; Hui Luo,
| | - Hui Luo
- Department of Rheumatology, Xiangya Hospital of Central South University, Changsha, China
- National Clinical Research Center for Geriatric Disorders, Xiangya Hospital of Central South University, Changsha, China
- Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital of Central South University, Changsha, China
- *Correspondence: Honglin Zhu, ; Hui Luo,
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Kishore J, Pradhan S, Rani P, Kumar S, Mahto M. Significant U1snRNP Positivity in 3 Cases of Overlap Syndrome: A Diagnostic Dilemma. J Appl Lab Med 2022; 7:342-349. [PMID: 34996064 DOI: 10.1093/jalm/jfab138] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/06/2021] [Accepted: 10/07/2021] [Indexed: 11/13/2022]
Affiliation(s)
- Jugnu Kishore
- Department of Biochemistry, AIIMS Patna, Bihar, India
| | | | - Priti Rani
- Department of Biochemistry, AIIMS Patna, Bihar, India
| | | | - Mala Mahto
- Department of Biochemistry, AIIMS Patna, Bihar, India
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Saito S, Endo Y, Nishio M, Uchiyama A, Uehara A, Toki S, Yasuda M, Ishikawa O, Muro Y, Motegi SI. Anti-polymyositis/Scl antibody-positive overlap syndrome of diffuse cutaneous systemic sclerosis, dermatomyositis, systemic lupus erythematosus, and antiphospholipid syndrome. J Dermatol 2021; 49:294-298. [PMID: 34730249 DOI: 10.1111/1346-8138.16219] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/19/2021] [Revised: 10/04/2021] [Accepted: 10/20/2021] [Indexed: 11/28/2022]
Abstract
A 37-year-old Japanese man with a 3-year history of diffuse cutaneous systemic sclerosis was admitted to our hospital with high fever, arthralgia, myalgia, and muscle weakness. A physical examination revealed facial erythema, Gottron's sign, and mechanic's hands in addition to skin sclerosis. Laboratory data revealed significantly elevated levels of creatine kinase and decreased complement. Anti-RNP, anti-Smith, anti-DNA, anti-β2 -glycoprotein 1, anti-polymyositis (PM)/Scl75, and anti-PM/Scl100 antibodies were detected. He also had urinary protein, interstitial lung disease, pericarditis, multifocal cerebral infarctions, and leukoencephalopathy. Thus, a diagnosis of overlap syndrome of diffuse cutaneous systemic sclerosis, dermatomyositis, and systemic lupus erythematosus with antiphospholipid syndrome was made. Because of the intractable course, he was treated with multiple immunosuppressive and immunomodulatory drugs, including three rounds of 1000 mg methylprednisolone pulse therapy. This is the first case report of anti-PM/Scl antibody-positive overlap syndrome of three major connective tissue diseases.
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Affiliation(s)
- Shintaro Saito
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
| | - Yukie Endo
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
| | - Mayu Nishio
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
| | - Akihiko Uchiyama
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
| | - Akihito Uehara
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
| | - Sayaka Toki
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
| | - Masahito Yasuda
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
| | - Osamu Ishikawa
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
| | - Yoshinao Muro
- Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Sei-Ichiro Motegi
- Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan
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Jantarat A, Muangchan C. Epidemiology and clinical characteristics of systemic sclerosis overlap syndrome (SSc-OS), and the factors significantly associated with SSc-OS in Thai patients with systemic sclerosis. Mod Rheumatol 2021; 32:899-907. [PMID: 34918144 DOI: 10.1093/mr/roab079] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/18/2021] [Revised: 08/01/2021] [Accepted: 09/16/2021] [Indexed: 11/13/2022]
Abstract
OBJECTIVE To investigate the epidemiology and characteristics of systemic sclerosis (SSc) overlap syndrome (SSc-OS). METHODS This study included patients enrolled in the Siriraj Systemic Sclerosis Cohort registry during November 2013 to September 2019. SSc-OS was defined as SSc patients who also met criteria for rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), dermatomyositis (DM), polymyositis (PM), Sjogren, and/or antiphospholipid antibody syndrome. Baseline and 1-year characteristics were compared between SSc and SSc-OS. RESULTS 185 patients (age 50.3 ± 11.4 years, 85.4% female, disease duration 2.7 years, 75.1% diffuse cutaneous subset, 75.6% anti-Scl-70 positivity) were included. The incidence and prevalence rate of SSc-OS was 3.2/100 patient-years and 17.8%. Regarding SSc-OS, 12.4%, 2.2%, 1.1%, 1.6%, and 0.5% of patients were classified as SSc-RA, SSc-SLE, SSc-PM, SSc-RA-SLE, and SSc-SLE-PM. SSc-OS had a higher prevalence of limited cutaneous subset (lcSSc), usual interstitial pneumonia, finger contractures, ESR >20 mm/hr., globulin >3.5 g/dL, rheumatoid factor, anti-citrullinated peptide antibody, and antiphospholipid antibodies. LcSSc subset (OR: 11.3, 95%CI: 2.0-62.6) and globulin >3.5 g/dL (OR: 6.2, 95%CI: 1.6-23.6) were associated with SSc-OS. CONCLUSION SSc-OS is associated with the lcSSc subset. RA is the most common overlap syndrome. LcSSc patients with globulin >3.5 g/dL are associated with SSc-OS.
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Affiliation(s)
- Apichart Jantarat
- Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
| | - Chayawee Muangchan
- Division of Rheumatology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
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31
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Ríos-Garcés R, Cervera R. Anti Ro52 antibodies: One step further, but still not there yet. Eur J Intern Med 2021; 91:31-32. [PMID: 34217576 DOI: 10.1016/j.ejim.2021.06.018] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/11/2021] [Accepted: 06/11/2021] [Indexed: 11/23/2022]
Affiliation(s)
- Roberto Ríos-Garcés
- Department of Autoimmune Diseases, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Hospital Clínic, Villarroel, 170, Barcelona, Catalonia 08036, Spain
| | - Ricard Cervera
- Department of Autoimmune Diseases, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Hospital Clínic, Villarroel, 170, Barcelona, Catalonia 08036, Spain.
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Landon-Cardinal O, Baril-Dionne A, Hoa S, Meyer A, Leclair V, Bourré-Tessier J, Mansour AM, Zarka F, Makhzoum JP, Nehme J, Rich E, Goulet JR, Grodzicky T, Koenig M, Joyal F, Richard I, Hudson M, Targoff I, Satoh M, Fritzler MJ, Troyanov Y, Senécal JL. Recognising the spectrum of scleromyositis: HEp-2 ANA patterns allow identification of a novel clinical subset with anti-SMN autoantibodies. RMD Open 2021; 6:rmdopen-2020-001357. [PMID: 32892170 PMCID: PMC7509989 DOI: 10.1136/rmdopen-2020-001357] [Citation(s) in RCA: 22] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/08/2020] [Revised: 07/17/2020] [Accepted: 08/10/2020] [Indexed: 12/28/2022] Open
Abstract
Objective To describe systemic sclerosis (SSc) with myopathy in patients without classic SSc-specific and SSc-overlap autoantibodies (aAbs), referred to as seronegative scleromyositis. Methods Twenty patients with seronegative scleromyositis diagnosed by expert opinion were analysed retrospectively for SSc features at myositis diagnosis and follow-up, and stratified based on HEp-2 nuclear patterns by indirect immunofluorescence (IIF) according to International Consensus of Autoantibody Patterns. Specificities were analysed by protein A−assisted immunoprecipitation. Myopathy was considered an organ involvement of SSc. Results SSc sine scleroderma was a frequent presentation (45%) at myositis diagnosis. Myositis was the most common first non-Raynaud manifestation of SSc (55%). Lower oesophagal dysmotility was present in 10 of 11 (91%) investigated patients. At follow-up, 80% of the patients met the American College of Rheumatology/EULAR SSc classification criteria. Two-thirds of patients had a positive HEp-2 IIF nuclear pattern (all with titers ≥1/320), defining three novel scleromyositis subsets. First, antinuclear antibody (ANA)-negative scleromyositis was associated with interstitial lung disease (ILD) and renal crisis. Second, a speckled pattern uncovered multiple rare SSc-specific aAbs. Third, the nuclear dots pattern was associated with aAbs to survival of motor neuron (SMN) complex and a novel scleromyositis subset characteriszed by calcinosis but infrequent ILD and renal crisis. Conclusions SSc skin involvement is often absent in early seronegative scleromyositis. ANA positivity, Raynaud phenomenon, SSc-type capillaroscopy and/or lower oesophagal dysmotility may be clues for scleromyositis. Using HEp-2 IIF patterns, three novel clinicoserological subsets of scleromyositis emerged, notably (1) ANA-negative, (2) ANA-positive with a speckled pattern and (3) ANA-positive with nuclear dots and anti-SMN aAbs.
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Affiliation(s)
- Océane Landon-Cardinal
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - Alexandra Baril-Dionne
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - Sabrina Hoa
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - Alain Meyer
- Centre de Référence des Maladies Autoimmunes Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
| | - Valérie Leclair
- Division of Rheumatology, Department of Medicine, Jewish General Hospital; Department of Medicine, McGill University, Montreal, QC, Canada
| | - Josiane Bourré-Tessier
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - Anne-Marie Mansour
- Division of Internal Medicine, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada
| | - Farah Zarka
- Division of Internal Medicine, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada
| | - Jean-Paul Makhzoum
- Division of Internal Medicine, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada
| | - Jessica Nehme
- Division of Geriatrics, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada
| | - Eric Rich
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - Jean-Richard Goulet
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - Tamara Grodzicky
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - Martial Koenig
- Division of Internal Medicine, CHUM; Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - France Joyal
- Division of Internal Medicine, CHUM; Department of Medicine, Université de Montréal, Montreal, QC, Canada
| | - Isabelle Richard
- Centre intégré de santé et de services sociaux Abitibi Témiscamingue, Rouyn-Noranda, QC, Canada
| | - Marie Hudson
- Division of Rheumatology, Department of Medicine, Jewish General Hospital; Department of Medicine, McGill University, Montreal, QC, Canada.,Lady Davis Institute for Medical Research, Montreal, QC, Canada
| | - Ira Targoff
- University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
| | - Minoru Satoh
- Department of Clinical Nursing, School of Health Sciences, University of Occupational and Environmental Health, Kitakyushu, Japan
| | - Marvin J Fritzler
- Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
| | - Yves Troyanov
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada.,Division of Rheumatology, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada
| | - Jean-Luc Senécal
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); Department of Medicine, Université de Montréal, Montreal, QC, Canada.,Autoimmunity Research Laboratory, CHUM Research Center, Montreal, QC, Canada
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Lefebvre F, Giannini M, Ellezam B, Leclair V, Troyanov Y, Hoa S, Bourré-Tessier J, Satoh M, Fritzler MJ, Senécal JL, Hudson M, Meyer A, Landon-Cardinal O. Histopathological features of systemic sclerosis-associated myopathy: A scoping review. Autoimmun Rev 2021; 20:102851. [PMID: 33971337 DOI: 10.1016/j.autrev.2021.102851] [Citation(s) in RCA: 17] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Revised: 03/13/2021] [Accepted: 03/20/2021] [Indexed: 12/25/2022]
Abstract
BACKGROUND Scleromyositis (SM) is an emerging subset of myositis associated with features of systemic sclerosis (SSc) but it is currently not recognized as a distinct histopathological subset by the European NeuroMuscular Center (ENMC). Our aim was to review studies reporting muscle biopsies from SSc patients with myositis and to identify unique histopathological features of SM. METHODS A scoping review was conducted and included all studies reporting histopathological findings in SSc patients with myositis searching the following databases: PubMed, MEDLINE, EMBASE, CINAHL and EBM-Reviews. Clinical, serological, and histopathological data were extracted using a standardized protocol. RESULTS Out of 371 citations, 77 studies that included 559 muscle biopsies were extracted. Fifty-seven percent (n = 227/400) had inflammatory infiltrates, predominantly T cells, which were endomysial (49%), perimysial (42%) and perivascular (41%). Few studies (18%, n = 8/44) evaluated the presence of B-cells. Myofiber atrophy was present in 48% (n = 104/218) of biopsies, and was predominantly perifascicular in 19% (n = 6/31), with necrosis reported in 56% (n = 162/290) of cases. Sarcolemmal MHC-I upregulation was found in 72% (n = 64/89) of biopsies. Non-specified C5b-9 deposition was described in 39% of muscle biopsies (n = 28/72). Neurogenic features were present in 23% (n = 44/191); endomysial fibrosis was reported in 35% (n = 120/340); and rimmed vacuoles were observed in 32% (n = 11/34) of biopsies. Capillaropathy, such as capillary dropout and/or ultrastructural endothelial abnormalities, was reported in 33% (n = 43/129) of cases. Reported ENMC categories were mainly polymyositis (21%), non-specific myositis (19%), immune-mediated necrotizing myopathy (16%), and dermatomyositis (8%). Histopathological features were analyzed according to serological subtypes in 28 studies, including anti-PM-Scl (n = 48), -Ku (n = 23) and -U1RNP (n = 90). Most of these biopsies demonstrated inflammatory infiltrates (range 49-85%) as well as MHC-I expression (range 63-81%). Necrosis was associated with anti-Ku (85%) and anti-U1RNP (73%), while anti-Ku was also associated with neurogenic features and rimmed vacuoles in 57% and 25% of cases, respectively. CONCLUSION Our review suggests that SM is characterized by heterogeneous pathological features using definitions included in current histopathological criteria. Whether a distinct histopathological signature exists in SM remains to be determined. SSc-specific and SSc-associated autoantibodies may help define more homogeneous histopathological subsets.
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Affiliation(s)
- Frédéric Lefebvre
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM), CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, Québec, Canada
| | - Margherita Giannini
- Service de Physiologie-Explorations Fonctionnelles Musculaire, Service de Rhumatologie et Centre de Référence des Maladies Autoimmunes Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
| | - Benjamin Ellezam
- Division of Pathology, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada
| | - Valérie Leclair
- Division of Rheumatology, Jewish General Hospital, Department of Medicine, McGill University, Montréal, Québec, Canada
| | - Yves Troyanov
- Division of Rheumatology, Hôpital du Sacré-Coeur, Department of Medicine, Université de Montréal, Montréal, Québec, Canada
| | - Sabrina Hoa
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM), CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, Québec, Canada
| | - Josiane Bourré-Tessier
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM), CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, Québec, Canada
| | - Minoru Satoh
- Department of Clinical Nursing, University of Occupational and Environmental Health, Kitakyushu, Japan
| | - Marvin J Fritzler
- Department of Medicine, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
| | - Jean-Luc Senécal
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM), CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, Québec, Canada
| | - Marie Hudson
- Division of Rheumatology, Jewish General Hospital, Department of Medicine, McGill University, Montréal, Québec, Canada
| | - Alain Meyer
- Service de Physiologie-Explorations Fonctionnelles Musculaire, Service de Rhumatologie et Centre de Référence des Maladies Autoimmunes Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
| | - Océane Landon-Cardinal
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM), CHUM Research Center, Department of Medicine, Université de Montréal, Montréal, Québec, Canada.
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Leclair V, D'Aoust J, Gyger G, Landon-Cardinal O, Meyer A, O'Ferrall E, Karamchandani J, Massie R, Ellezam B, Satoh M, Troyanov Y, Fritzler MJ, Hudson M. Autoantibody profiles delineate distinct subsets of scleromyositis. Rheumatology (Oxford) 2021; 61:1148-1157. [PMID: 34146090 DOI: 10.1093/rheumatology/keab492] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/29/2021] [Revised: 06/07/2021] [Indexed: 11/14/2022] Open
Abstract
OBJECTIVE Scleromyositis remains incompletely characterized owing in part to its heterogeneity. The purpose of this study was to explore the role of autoantibody profiles to define subsets of scleromyositis. METHODS Subjects with scleromyositis from a prospective cohort were divided into 3 groups based on autoantibody profiles: subjects with SSc-specific autoantibodies (anti-centromere, -topoisomerase 1, -RNA polymerase III, -Th/To, -fibrillarin), subjects with SSc-overlap autoantibodies (anti-PM/Scl, -U1RNP, -Ku), and subjects without SSc-related autoantibodies. Clinical features, laboratory tests, and histopathological findings were retrieved and compared between groups. RESULTS Of 42 scleromyositis subjects (79% female, mean age at diagnosis 55 years, mean disease duration 3.5 years), 8 (19%) subjects had SSc-specific autoantibodies, 14 (33%) SSc-overlap autoantibodies and 20 (48%) had no SSc-related autoantibodies. One-third had no skin involvement, a finding more frequent in the SSc-overlap subjects and those without SSc-related autoantibodies. Proximal and distal weakness was common and head drop/bent spine was found in 50% of the SSc-specific and 35% of the subjects without SSc-related autoantibodies. Of note, the group without SSc-related autoantibodies had the only cases of severe cardiac systolic dysfunction (n = 1) and scleroderma renal crisis (n = 1), as well as 3 out of the 4 cancers and 3 out of the 4 deaths. CONCLUSION In this carefully phenotyped series of scleromyositis subjects, absence of SSc-related autoantibodies was common and associated with distinct features and poor prognosis. Future studies are needed to validate these results and possibly identify novel autoantibodies or other biomarkers associated with scleromyositis.
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Affiliation(s)
- Valérie Leclair
- Department of Medicine, McGill University, Montreal, Canada.,Division of Rheumatology, Jewish General Hospital, Montreal, Canada
| | - Julie D'Aoust
- Department of Medicine, McGill University, Montreal, Canada
| | - Geneviève Gyger
- Department of Medicine, McGill University, Montreal, Canada.,Division of Rheumatology, Jewish General Hospital, Montreal, Canada
| | - Océane Landon-Cardinal
- Division of Rheumatology, Centre hospitalier de l'Université de Montréal (CHUM); CHUM Research Center; Department of Medicine, Université de Montréal, Montréal, Canada
| | - Alain Meyer
- Centre de Reference des Maladies Autoimmunes Rares service de rhumatologie, Exploration fonctionnelle musculaires service de physiologie Hôpitaux Universitaires de Strasbourg, EA3072 Université de Strasbourg, Strasbourg, France
| | - Erin O'Ferrall
- Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute, Montreal, Canada.,Department of Pathology, McGill University, Montreal Neurological Institute, Montreal, Canada
| | - Jason Karamchandani
- Department of Pathology, McGill University, Montreal Neurological Institute, Montreal, Canada
| | - Rami Massie
- Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute, Montreal, Canada
| | - Benjamin Ellezam
- Centre hospitalier universitaire Sainte-Justine, Montreal, Canada
| | - Minoru Satoh
- Department of Clinical Nursing, School of Health Sciences, University of Occupational and Environmental Health, Kitakyushu, Japan
| | - Yves Troyanov
- Division of Rheumatology, Department of Medicine, Hôpital du Sacre-Coeur de Montreal, Montreal, QC, Canada
| | | | - Marie Hudson
- Department of Medicine, McGill University, Montreal, Canada.,Division of Rheumatology, Jewish General Hospital, Montreal, Canada.,Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Canada
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Azzam A, Azzam M, Arif S. Intraductal Papillary Mucinous Neoplasm of the Pancreas Arising in a Patient With Limited Cutaneous Systemic Sclerosis. Cureus 2021; 13:e15197. [PMID: 34178517 PMCID: PMC8219343 DOI: 10.7759/cureus.15197] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022] Open
Abstract
Systemic sclerosis (SS) is a heterogenous autoimmune disease that manifests itself with skin and internal organ involvement. The association of SS and malignancy is an emerging field of study with limited data in the literature. This report highlights the unique case of a patient with limited cutaneous SS (lcSS) found to have an intraductal papillary mucinous neoplasm (IPMN) of the pancreas. In this report, we review the clinical manifestations, serologic findings, and phenotypes of SS. Furthermore, an evaluation of the risk of pancreatic neoplasms in patients with SS will be discussed, as well as the correlation of cancers among SS phenotypes and auto-antibodies. As part of our research, a PubMed search of the following terms was performed: “systemic sclerosis, scleroderma, limited cutaneous systemic sclerosis, CREST syndrome, Raynaud syndrome, cancer, malignancy, pancreas, and intraductal papillary mucinous neoplasm".
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Affiliation(s)
- Alex Azzam
- Internal Medicine, University of Arizona College of Medicine - Tucson, Tucson, USA
| | - Martin Azzam
- Dermatology, University of Missouri School of Medicine - Columbia, Columbia, USA.,Transitional Year, Southern Hills Hospital and Medical Center, Las Vegas, USA
| | - Salman Arif
- Internal Medicine, Southern Hills Hospital and Medical Center, Las Vegas, USA
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Gwathmey KG, Satkowiak K. Peripheral nervous system manifestations of rheumatological diseases. J Neurol Sci 2021; 424:117421. [PMID: 33824004 DOI: 10.1016/j.jns.2021.117421] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/05/2020] [Revised: 05/02/2020] [Accepted: 03/24/2021] [Indexed: 10/21/2022]
Abstract
Rheumatological diseases result in immune-mediated injury to not only connective tissue, but often components of the peripheral nervous system. These overlap conditions can be broadly categorized as peripheral neuropathies and overlap myositis. The peripheral neuropathies are distinctive as many have unusual presentations such as non-length-dependent, small fiber neuropathies and sensory neuronopathies (both due to dorsal root ganglia dysfunction), multiple mononeuropathies (e.g. vasculitic neuropathies), and even cranial neuropathies. Overlap myositis is increasingly recognized and is often associated with specific autoantibodies. Sarcoidosis also has widespread neurological manifestations and impacts both the peripheral nerves and muscle. Much work is needed to fully characterize the vast presentations of these overlap diseases. Given the rarity of these disorders, they are understudied, resulting in significant knowledge gaps with regards to their underlying pathophysiology and the best treatment approach. A basic knowledge of these disorders is mandatory for both practicing rheumatologists and neurologists as prompt recognition and early initiation of immunotherapy may prevent significant morbidity and permanent disability.
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Affiliation(s)
- Kelly G Gwathmey
- Virginia Commonwealth University, Department of Neurology, 1101 E Marshall St., PO Box 980599, Richmond, VA 23298, USA.
| | - Kelsey Satkowiak
- University of Virginia, Department of Neurology, Charlottesville, VA, USA
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Lazzaroni MG, Marasco E, Campochiaro C, DeVries-Bouwstra J, Gonzalez-Perez MI, Rojas-Serrano J, Hachulla E, Zanatta E, Barsotti S, Furini F, Triantafyllias K, Abignano G, Truchetet ME, De Luca G, De Langhe E, Hesselstrand R, Ingegnoli F, Bertoldo E, Smith V, Bellando-Randone S, Poormoghim H, Colombo E, Ceribelli A, Furloni A, Zingarelli S, Cavazzana I, Franceschini F, Del Galdo F, Denton CP, Cavagna L, Distler O, Allanore Y, Airò P. The clinical phenotype of Systemic Sclerosis patients with anti-PM/Scl antibodies: results from the EUSTAR cohort. Rheumatology (Oxford) 2021; 60:5028-5041. [PMID: 33580257 DOI: 10.1093/rheumatology/keab152] [Citation(s) in RCA: 29] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/03/2020] [Accepted: 02/03/2021] [Indexed: 12/12/2022] Open
Abstract
OBJECTIVE To evaluate clinical associations of anti-PM/Scl antibodies in patients with Systemic Sclerosis (SSc) in a multicentre international cohort, with particular focus on unresolved issues, including scleroderma renal crisis (SRC), malignancies, and functional outcome of interstitial lung disease (ILD). METHODS (1) Analysis of SSc patients from the EUSTAR database: 144 anti-PM/Scl+ without SSc-specific autoantibodies were compared to 7,202 anti-PM/Scl-, and then to 155 anti-Pm/Scl+ with SSc-specific antibodies. (2) Case-control study: additional data were collected for 165 anti-PM/Scl+ SSc (85 from the EUSTAR registry), and compared to 257 anti-PM/Scl- SSc controls, matched for sex, cutaneous subset, disease duration, and age at SSc onset. RESULTS Patients with isolated anti-PM/Scl positivity, as compared with anti-Pm/Scl-, had higher frequency of muscle involvement, ILD, calcinosis and cutaneous signs of dermatomyositis, but similar frequency of SRC and malignancies (either synchronous with SSc onset or not). The presence of muscle involvement was associated with a more severe disease phenotype. Although very frequent, ILD had a better functional outcome in cases than in controls.In patients with both anti-PM/Scl and SSc-specific antibodies, a higher frequency of typical SSc features than in those with isolated anti-PM/Scl was observed. CONCLUSION The analysis of the largest series of anti-PM/Scl+ SSc patients so far reported helps to delineate a specific clinical subset with muscle involvement, cutaneous dermatomyositis, calcinosis, and ILD characterized by a good functional outcome. SRC and malignancies do not seem to be part of this syndrome.
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Affiliation(s)
- Maria-Grazia Lazzaroni
- Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy.,Department of Clinical and Experimental Sciences, University of Brescia, Italy
| | - Emiliano Marasco
- Division of Rheumatology, Hospital IRCCS Policlinico S. Matteo Foundation of Pavia, University of Pavia, Pavia, Italy
| | - Corrado Campochiaro
- Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Scientific Institute and Vita-Salute San Raffaele University, Milan, Italy.,Royal Free Hospital and University College London Medical School, London, UK
| | - Jeska DeVries-Bouwstra
- Department of Rheumatology, Leiden University Medical Centre (LUMC), Leiden, Netherlands
| | - Montserrat-Ixchel Gonzalez-Perez
- Interstitial Lung Disease and Rheumatology Units, Instituto Nacional de Enfermedades Respiratorias, Ismael Cosío Villegas, México City, México
| | - Jorge Rojas-Serrano
- Interstitial Lung Disease and Rheumatology Units, Instituto Nacional de Enfermedades Respiratorias, Ismael Cosío Villegas, México City, México
| | - Eric Hachulla
- Department of Internal Medicine, University Lille Nord-de-France, Lille, France
| | - Elisabetta Zanatta
- Rheumatology Unit, Department of Medicine-DIMED, University of Padova, Padova, Italy
| | - Simone Barsotti
- Division of Rheumatology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
| | - Federica Furini
- UOC Reumatologia, Azienda Ospedaliero Universitaria S. Anna, University of Ferrara, Ferrara, Italy
| | | | - Giuseppina Abignano
- Leeds Institute of Rheumatic and Musculoskeletal Medicine and NIHR Biomedical Research Centre, Leeds, UK
| | | | - Giacomo De Luca
- Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Scientific Institute and Vita-Salute San Raffaele University, Milan, Italy
| | - Ellen De Langhe
- Department of Rheumatology, University Hospitals Leuven, Leuven, Belgium
| | - Roger Hesselstrand
- Department of Clinical Sciences, Section of Rheumatology, Lund University, Lund, Sweden
| | - Francesca Ingegnoli
- Division of Clinical Rheumatology, ASST Pini-CTO; Department of Clinical Sciences and Community Health, Research Center for Adult and Pediatric Rheumatic Diseases, Università degli Studi di Milano, Milano, Italy
| | - Eugenia Bertoldo
- Rheumatology Unit, Azienda Ospedaliero Universitaria Integrata, Verona, Italy
| | - Vanessa Smith
- Rheumatology, Ghent University Hospital, Ghent University, Ghent, Belgium
| | - Silvia Bellando-Randone
- Department of Biomedicine, Division of Rheumatology AOUC and Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy
| | - Hadi Poormoghim
- Scleroderma Study group, Department of Rheumatology. Firoozgar Hospital, Tehran, Iran
| | | | | | - Alessio Furloni
- Department of Clinical and Experimental Sciences, University of Brescia, Italy
| | - Stefania Zingarelli
- Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy
| | - Ilaria Cavazzana
- Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy
| | - Franco Franceschini
- Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy.,Department of Clinical and Experimental Sciences, University of Brescia, Italy
| | - Francesco Del Galdo
- Leeds Institute of Rheumatic and Musculoskeletal Medicine and NIHR Biomedical Research Centre, Leeds, UK
| | | | - Lorenzo Cavagna
- Division of Rheumatology, Hospital IRCCS Policlinico S. Matteo Foundation of Pavia, University of Pavia, Pavia, Italy
| | - Oliver Distler
- Division of Rheumatology, University Hospital Zurich, Zurich, Switzerland
| | - Yannick Allanore
- Department of Rheumatology, University of Paris, Cochin Hospital and INSERM U1016, Paris, France
| | - Paolo Airò
- Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy
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Huang K, Aggarwal R. Antisynthetase syndrome: A distinct disease spectrum. JOURNAL OF SCLERODERMA AND RELATED DISORDERS 2020; 5:178-191. [PMID: 35382516 PMCID: PMC8922626 DOI: 10.1177/2397198320902667] [Citation(s) in RCA: 34] [Impact Index Per Article: 6.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/08/2019] [Accepted: 12/11/2019] [Indexed: 07/28/2023]
Abstract
The discovery of novel autoantibodies related to idiopathic inflammatory myopathies (collectively referred to as myositis) has not only advanced our understanding of the clinical, serological, and pathological correlation in the disease spectrum but also played a role in guiding management and prognosis. One group of the myositis-specific autoantibodies is anti-aminoacyl-tRNA synthetase (anti-ARS or anti-synthetase) which defines a syndrome with predominant interstitial lung disease, arthritis, and myositis. Autoantibodies to eight aminoacyl-tRNA synthetases have been identified with anti-Jo1 the most common in all of idiopathic inflammatory myopathies. Disease presentation and prognosis vary depending on which anti-aminoacyl-tRNA synthetase antibody is present. In this review, we will discuss the clinical characteristics, overlap features with other autoimmune diseases, prognostic factors, and management of the antisynthetase syndrome.
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Affiliation(s)
- Kun Huang
- Division of Rheumatology, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada
| | - Rohit Aggarwal
- Arthritis and Autoimmunity Center and UPMC Myositis Center, Division of Rheumatology and Clinical Immunology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA
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Jain S, Sharma SK. Differentiating disease activity from damage in systemic sclerosis: it's still early days! Ann Rheum Dis 2020; 79:e98. [PMID: 31118192 DOI: 10.1136/annrheumdis-2019-215588] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/21/2019] [Accepted: 04/25/2019] [Indexed: 11/03/2022]
Affiliation(s)
- Siddharth Jain
- Clinical Immunology and Rheumatology, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India
| | - Shefali Khanna Sharma
- Clinical Immunology and Rheumatology, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, Indiaa
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40
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Oláh C, Schwartz N, Denton C, Kardos Z, Putterman C, Szekanecz Z. Cognitive dysfunction in autoimmune rheumatic diseases. Arthritis Res Ther 2020; 22:78. [PMID: 32293528 PMCID: PMC7158026 DOI: 10.1186/s13075-020-02180-5] [Citation(s) in RCA: 37] [Impact Index Per Article: 7.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/11/2019] [Accepted: 04/01/2020] [Indexed: 02/08/2023] Open
Abstract
For people with chronic autoimmune rheumatic diseases (AIRD), such as rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) or systemic sclerosis (SSc), normal cognitive functions are essential for performing daily activities. These diseases may be associated with cognitive dysfunction (CD). In RA, CD has been associated with age, lower education and disease duration and activity. Great advances have been achieved in neuropsychiatric SLE in the identification of pathogenic pathways, assessment and possible treatment strategies. SSc rarely exerts direct effects on the brain and cognitive function. However, the psychological burden that includes depression, anxiety and social impact may be high. AIRD patients with sustained disease activity, organ damage or lower education should be evaluated for CD. The control of systemic inflammation together with tailored behavioural cognitive therapies may benefit these patients.
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Affiliation(s)
- Csaba Oláh
- Departments of Neurosurgery, Borsod County Teaching Hospital, Miskolc, Hungary
| | - Noa Schwartz
- Division of Rheumatology, Albert Einstein College of Medicine, Bronx, NY, 10461, USA
| | - Christopher Denton
- Centre for Rheumatology, Royal Free Campus, University College London, London, UK
| | - Zsófia Kardos
- Departments of Rheumatology, Borsod County Teaching Hospital, Miskolc, Hungary
| | - Chaim Putterman
- Division of Rheumatology, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.,Department of Microbiology & Immunology, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.,Azrieli Faculty of Medicine of Bar Ilan University, Zefat, Israel.,Research Institute, Galilee Medical Center, Nahariya, Israel
| | - Zoltán Szekanecz
- Division of Rheumatology, Faculty of Medicine, University of Debrecen, Nagyerdei str 98, Debrecen, 4032, Hungary.
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Sebestyén V, Szűcs G, Páll D, Ujvárosy D, Ötvös T, Csige I, Pataki T, Lőrincz I, Szabó Z. Electrocardiographic markers for the prediction of ventricular arrhythmias in patients with systemic sclerosis. Rheumatology (Oxford) 2020; 59:478-486. [PMID: 31943100 PMCID: PMC7032033 DOI: 10.1093/rheumatology/kez644] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/02/2019] [Revised: 12/02/2019] [Indexed: 12/27/2022] Open
Abstract
SSc is an autoimmune disease characterized by microvascular damage, endothelial dysfunction and fibrosis of the skin and the internal organs. Cardiac manifestation in patients with SSc is one of the major organ involvements. Approximately 20% of SSc patients suffer from primary cardiovascular disease and another 20% may have secondary cardiac involvement. Although cardiac arrhythmias are mostly linked to myocardial fibrosis, atrioventricular conduction abnormalities are secondary to the fibrosis of the pulse conduction system. Despite the severe consequences of ventricular rhythm disturbances in patients with SSc, the exact role of electrocardiographic markers in the prediction of these arrhythmias has not yet been clearly elucidated. Therefore, the question is whether certain ECG parameters reflecting ventricular repolarization may help to recognize scleroderma patients with increased risk for ventricular arrhythmias and sudden cardiac death.
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Affiliation(s)
- Veronika Sebestyén
- Department of Emergency Medicine, Faculty of MedicineUniversity of Debrecen, Debrecen, Hungary
- Doctoral School of Health Sciences, Faculty of Public HealthUniversity of Debrecen, Debrecen, Hungary
| | | | - Dénes Páll
- Institute of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary
| | - Dóra Ujvárosy
- Department of Emergency Medicine, Faculty of MedicineUniversity of Debrecen, Debrecen, Hungary
- Doctoral School of Health Sciences, Faculty of Public HealthUniversity of Debrecen, Debrecen, Hungary
| | - Tamás Ötvös
- Department of Emergency Medicine, Faculty of MedicineUniversity of Debrecen, Debrecen, Hungary
- Doctoral School of Health Sciences, Faculty of Public HealthUniversity of Debrecen, Debrecen, Hungary
| | - Imre Csige
- Department of Emergency Medicine, Faculty of MedicineUniversity of Debrecen, Debrecen, Hungary
- Doctoral School of Health Sciences, Faculty of Public HealthUniversity of Debrecen, Debrecen, Hungary
| | - Tamás Pataki
- Department of Emergency Medicine, Faculty of MedicineUniversity of Debrecen, Debrecen, Hungary
| | - István Lőrincz
- Department of Emergency Medicine, Faculty of MedicineUniversity of Debrecen, Debrecen, Hungary
| | - Zoltán Szabó
- Department of Emergency Medicine, Faculty of MedicineUniversity of Debrecen, Debrecen, Hungary
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Alam F, Abdulaziz HM, Ul Haq I, Mahdy SM, Mohammed Siam AR, Chandra P, Al Emadi S. Characteristics of patients with systemic sclerosis living in Qatar. Qatar Med J 2020; 2019:16. [PMID: 31903322 PMCID: PMC6929649 DOI: 10.5339/qmj.2019.16] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/20/2019] [Accepted: 07/18/2019] [Indexed: 11/29/2022] Open
Abstract
Objective: The aim of this study was to determine the demographic, clinical, and immunological characteristics of patients with systemic sclerosis living in Qatar. Method: This retrospective study included 42 patients with systemic sclerosis who attended Rheumatology Clinics at Hamad General Hospital in Doha, Qatar, between January 2000 and December 2014. All patients fulfilled the 1980 American College of Rheumatology (ACR) classification criteria for systemic sclerosis. Results: The 42 consecutively recruited patients of mixed ethnicities consisted of 37 (88.1%) females and 5 (11.9%) males. Of the total 42 patients, 22 (52.4%) had diffuse cutaneous systemic sclerosis (dcSSc) and 20 (47.6%) had limited cutaneous systemic sclerosis (lcSSc). Mean age at onset of first symptoms was 34.5 ± 12 years, and mean age at diagnosis was 36.1 ± 11.5 years. During follow-up, Raynaud's phenomenon occurred in 36 (85.7%) patients, sclerodactyly in 39 (92.9%) patients, digital ulcers in 16 (38.1%) patients, calcinosis in 6 (14.3%) patients, telangiectasia in 16 (38.1%) patients, and arthritis in 13 (31%) patients. The gastrointestinal and respiratory systems were the most frequently affected internal organs. Gastrointestinal involvement was present in 36 (85.7%) patients, and respiratory involvement was found in 30 (71.4%) patients. The majority of patients had positive antinuclear antibodies (ANA; 97.6%). Anti-Scl-70 antibody was found in 66.7% and anti-centromere antibody (ACA) was detected in 14.3% of the patients. Conclusion: To our knowledge, this is the first study that describes the clinical and immunological profile of patients with systemic sclerosis living in Qatar. This study cohort showed an earlier age of disease onset and diagnosis than that reported in other international studies. Furthermore, in contrast to several other studies, the diffuse type of scleroderma was more commonly observed than the limited type, which resulted in a high frequency of anti-Scl-70 antibody and interstitial lung disease.
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Affiliation(s)
- Fiaz Alam
- Rheumatology Section, Department of Medicine, Hamad Medical Corporation, Doha, Qatar
| | | | - Irfan Ul Haq
- Pulmonary Section, Department of Medicine, Hamad Medical Corporation, Doha, Qatar
| | - Salah Mohamed Mahdy
- Rheumatology Section, Department of Medicine, Hamad Medical Corporation, Doha, Qatar
| | | | - Prem Chandra
- Medical Research Centre, Hamad Medical Corporation, Doha, Qatar
| | - Samar Al Emadi
- Rheumatology Section, Department of Medicine, Hamad Medical Corporation, Doha, Qatar
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Taylan A, Tekin E, Engin B. Glomerulonephritis and Coombs-positive hemolytic anemia mimicking scleroderma renal crisis in an overlap of systemic lupus erythematosus and diffuse systemic sclerosis. Rheumatol Int 2019; 40:785-789. [PMID: 31701184 DOI: 10.1007/s00296-019-04471-w] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/21/2019] [Accepted: 10/28/2019] [Indexed: 10/25/2022]
Abstract
Systemic sclerosis (SSc) may overlap frequently with other rheumatic diseases, including systemic lupus erythematosus (SLE), which can require high-dose steroids depending on the clinical presentation. We present a case involving this overlap in which the patient concomitantly developed lupus nephritis and Coombs (+) hemolytic anemia, which was confused with scleroderma renal crisis. In this condition, assessing for lupus nephritis with timely renal biopsy and lupus serology can aid in guiding the appropriate treatment. We discuss the clinical features and challenging management of this case with a review of the English-language literature for SSc and SLE overlap with glomerulonephritis.
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Affiliation(s)
- Ali Taylan
- Department of Rheumatology, Izmir Tepecik Training and Research Hospital, Saglik Bilimleri University, Yenisehir, Izmir, Turkey.
| | - Emel Tekin
- Department of Pathology, Izmir Tepecik Training and Research Hospital, Saglik Bilimleri University, Izmir, Turkey
| | - Bahar Engin
- Department of Internal Medicine, Izmir Tepecik Training and Research Hospital, Saglik Bilimleri University, Izmir, Turkey
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Clark KE, Etomi O, Ong VH. Systemic sclerosis in pregnancy. Obstet Med 2019; 13:105-111. [PMID: 33093861 DOI: 10.1177/1753495x19878042] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/01/2018] [Accepted: 08/31/2019] [Indexed: 01/08/2023] Open
Abstract
Systemic sclerosis is a rare multisystem connective tissue disease. It predominantly affects women and poses a significant risk to mother and baby during pregnancy if not managed appropriately. The commonest manifestations are skin fibrosis and Raynaud's phenomenon. Subgroups of women have an increased risk of organ involvement, especially interstitial lung disease, pulmonary arterial hypertension and renal crises. Pregnancy increases the risk to the mother, especially those with established organ involvement, but also the development of new organ dysfunction; and risks to the fetus. Optimising these women prior to conception, along with careful management and surveillance during pregnancy, is vital for optimising pregnancy outcome. Women with scleroderma need to be managed in a specialised centre with coordinated care from the multi-disciplinary teams including physicians, obstetricians, anaesthetists, neonatologists and midwives. This review aims to describe the risks associated with systemic sclerosis and pregnancy, with management advice for physicians looking after pregnant women with this chronic condition.
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Affiliation(s)
- Kristina En Clark
- Centre of Rheumatology and Connective Tissue Diseases, UCL Royal Free Medical School, London, UK
| | - Oseme Etomi
- Department of Obstetric Medicine, Guy's and St Thomas' NHS Foundation Trust, London, UK
| | - Voon H Ong
- Centre of Rheumatology and Connective Tissue Diseases, UCL Royal Free Medical School, London, UK
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Tonsawan P, Talabthong K, Puapairoj A, Foocharoen C. Renal pathology and clinical associations in systemic sclerosis: a historical cohort study. Int J Gen Med 2019; 12:323-331. [PMID: 31564955 PMCID: PMC6730604 DOI: 10.2147/ijgm.s221471] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2019] [Accepted: 08/14/2019] [Indexed: 12/15/2022] Open
Abstract
Background The information guiding the treatment decision(s) for renal diseases in systemic sclerosis (SSc) is the renal pathological finding. This study aimed to evaluate the renal pathological diagnosis and its clinical feature among SSc. Method A historical cohort study was performed on adult Thai SSc patients who underwent renal biopsy during January 2005-December 2016. The renal pathologic findings and patient clinical characteristics were reviewed. Chi-square or Fisher's exact test was applied to analyze the association between clinical manifestation and renal pathology. Results Of the 26 SSc patients identified (77% female), 46% had the diffuse cutaneous SSc subtype. The mean age at the time of biopsy was 53.2±14.4 years and median duration of disease was 2.4 years (IQR 0.5-7.0). Rapidly progressive glomerulonephritis (RPGN) was the most common renal manifestation (53.9%) followed by nephrotic syndrome (19.2%) and nephritis (11.5%). The pathological diagnosis included lupus nephritis (LN) class IV (26.9%), LN class V (19.2%), scleroderma renal crisis (SRC; 19.3%), progressive renal disease in scleroderma (7.7%), and IgA nephropathy (7.7%). The nephrotic syndrome was the most common renal feature among LN class V patients, whereas RPGN was the commonest renal presentation among LN class IV and SRC patients (p=0.001). Dialysis treatment at the time of kidney biopsy was significantly higher in SRC patients than in the other groups (p<0.001). The SRC tended to have more frequent cardiac involvement, pulmonary fibrosis, and shorter disease duration than the other groups. Conclusion This is the first report of renal pathologic findings in Thai SSc patients. RPGN is the commonest renal manifestation among SSc who underwent kidney biopsy; for whom LN was the most common pathological finding. Nephrotic syndrome is a clinical feature of glomerular diseases other than renal involvement in SSc.
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Affiliation(s)
- Pantipa Tonsawan
- Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
| | - Komkid Talabthong
- Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
| | - Anucha Puapairoj
- Department of Pathology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
| | - Chingching Foocharoen
- Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
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Stuhlmüller B, Schneider U, González-González JB, Feist E. Disease Specific Autoantibodies in Idiopathic Inflammatory Myopathies. Front Neurol 2019; 10:438. [PMID: 31139133 PMCID: PMC6519140 DOI: 10.3389/fneur.2019.00438] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/03/2018] [Accepted: 04/10/2019] [Indexed: 01/21/2023] Open
Abstract
Idiopathic inflammatory myopathies represent still a diagnostic and therapeutic challenge in different disciplines including neurology, rheumatology, and dermatology. In recent years, the spectrum of idiopathic inflammatory myopathies has been significantly extended and the different manifestations were described in more detail leading to new classification criteria. A major breakthrough has also occurred with respect to new biomarkers especially with the characterization of new autoantibody-antigen systems, which can be separated in myositis specific antibodies and myositis associated antibodies. These markers are detectable in approximately 80% of patients and facilitate not only the diagnostic procedures, but provide also important information on stratification of patients with respect to organ involvement, risk of cancer and overall prognosis of disease. Therefore, it is not only of importance to know the significance of these markers and to be familiar with the optimal diagnostic tests, but also with potential limitations in detection. This article focuses mainly on antibodies which are specific for myositis providing an overview on the targeted antigens, the available detection procedures and clinical association. As major tasks for the near future, the need of an international standardization is discussed for detection methods of autoantibodies in idiopathic inflammatory myopathies. Furthermore, additional investigations are required to improve stratification of patients with idiopathic inflammatory myopathies according to their antibody profile with respect to response to different treatment options.
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Affiliation(s)
- Bruno Stuhlmüller
- Department of Rheumatology and Clinical Immunology, Charité-Universitätsmedizin, Berlin, Germany
| | - Udo Schneider
- Department of Rheumatology and Clinical Immunology, Charité-Universitätsmedizin, Berlin, Germany
| | - José-B González-González
- Department of Rheumatology and Clinical Immunology, Charité-Universitätsmedizin, Berlin, Germany.,Labor Berlin-Charité Vivantes GmbH, Berlin, Germany
| | - Eugen Feist
- Department of Rheumatology and Clinical Immunology, Charité-Universitätsmedizin, Berlin, Germany
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Burbelo PD, Gordon SM, Waldman M, Edison JD, Little DJ, Stitt RS, Bailey WT, Hughes JB, Olson SW. Autoantibodies are present before the clinical diagnosis of systemic sclerosis. PLoS One 2019; 14:e0214202. [PMID: 30913258 PMCID: PMC6435159 DOI: 10.1371/journal.pone.0214202] [Citation(s) in RCA: 43] [Impact Index Per Article: 7.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/30/2018] [Accepted: 03/08/2019] [Indexed: 02/02/2023] Open
Abstract
Systemic sclerosis (SSc) is a heterogeneous autoimmune disorder associated with vascular dysfunction and fibrotic changes in the skin, vasculature and internal organs. Although serologic abnormalities are an important diagnostic tool for SSc, little is known about whether autoantibodies precede clinical diagnosis. Here we investigated the presence of autoantibodies before SSc diagnosis and assessed whether certain autoantibodies might associate with the future onset of scleroderma renal crisis (SRC), a potentially fatal complication of the disease. Using the Department of Defense Serum Repository, autoantibodies were analyzed from archived, prospectively collected, longitudinal serum samples from sixteen individuals with SRC (SSc/SRC) and thirty cases of SSc without SRC (SSc/no SRC), matched for age, sex, and race. Seventy five percent (12/16) of the SSc/SRC and 40% (12/30) of the SSc/no SRC were seropositive for at least one autoantibody prior to clinical diagnosis (up to 27.1 years earlier, mean = -7.4 years). Although both disease groups demonstrated a heterogeneous immunoreactivity profile against the autoantigen panel, the SSc/SRC subjects showed two enriched clusters with one featuring elevated levels of autoantibodies against Ro52 and/or Ro60 and another with high levels of immunoreactivity against the RNA polymerase complex. Consistent with larger spectrum of immunoreactivity and the elevated levels of autoantibodies in SSc/SRC, the total response against the autoantigen panel from the last time point of the seropositive subjects revealed that the SSc/SRC cohort harbored higher antibody levels (p = 0.02) compared to SSc/no SRC. Overall, our findings demonstrate that relevant seropositive autoantibodies often precede the clinical diagnosis of SSc/no SRC and SSc/SRC.
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Affiliation(s)
- Peter D. Burbelo
- Dental Clinical Research Core, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, United States of America
| | - Sarah M. Gordon
- Nephrology Department, Walter Reed National Military Medical Center, Bethesda, MD, United States of America
| | - Meryl Waldman
- Kidney Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, and, National Institutes of Health, Bethesda, MD, United States of America
| | - Jess D. Edison
- Rheumatology Department, Walter Reed National Military Medical Center, Bethesda, MD, United States of America
| | - Dustin J. Little
- Nephrology Department, Walter Reed National Military Medical Center, Bethesda, MD, United States of America
| | - Rodger S. Stitt
- Rheumatology Department, Walter Reed National Military Medical Center, Bethesda, MD, United States of America
| | - Wayne T. Bailey
- Rheumatology Department, Walter Reed National Military Medical Center, Bethesda, MD, United States of America
| | - James B. Hughes
- Uniformed Services University of the Health Sciences, Bethesda, MD, United States of America
| | - Stephen W. Olson
- Nephrology Department, Walter Reed National Military Medical Center, Bethesda, MD, United States of America
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Clinical Characteristics and Associated Systemic Diseases in Patients With Esophageal "Absent Contractility"-A Clinical Algorithm. J Clin Gastroenterol 2019; 53:184-190. [PMID: 29356781 DOI: 10.1097/mcg.0000000000000989] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]
Abstract
GOALS This study was carried out to assess the clinical characteristics and associated systemic diseases seen in patients diagnosed with absent contractility as per the Chicago Classification version 3.0, allowing us to propose a diagnostic algorithm for their etiologic testing. BACKGROUND The Chicago Classification version 3.0 has redefined major and minor esophageal motility disorders using high-resolution esophageal manometry. There is a dearth of publications based on research on absent contractility, which historically has been associated with myopathic processes such as systemic sclerosis (SSc). STUDY We conducted a retrospective, multicenter study. Data of patients diagnosed with absent contractility were pooled from Cleveland Clinic, Cleveland, OH (January 2006 to July 2016) and Metrohealth Medical Center, Cleveland, OH (July 2014 to July 2016) and included: age, gender, associated medical conditions, surgical history, medications, and specific antibody testing. RESULTS A total of 207 patients, including 57 male individuals and 150 female individuals, with mean age of 56.1 and 60.0 years, respectively, were included. Disease distribution was as follows: SSc (diffuse or limited cutaneous) 132, overlap syndromes 7, systemic lupus erythematosus17, Sjögren syndrome 4, polymyositis 3, and dermatomyositis 3. Various other etiologies including gastroesophageal reflux disease, postradiation esophagitis, neuromuscular disorders, and surgical complications were seen in the remaining cohort. CONCLUSIONS Most practitioners use the term "absent contractility" interchangeably with "scleroderma esophagus"; however, only 63% of patients with absent contractility had SSc. Overall, 20% had another systemic autoimmune rheumatologic disease and 16% had a nonrheumatologic etiology for absent contractility. Therefore, alternate diagnosis must be sought in these patients. We propose an algorithm for their etiologic evaluation.
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Blank RB, Nwawka OK, Yusov AA, Gordon JK. Inflammatory arthritis in systemic sclerosis: What to do? JOURNAL OF SCLERODERMA AND RELATED DISORDERS 2019; 4:3-16. [PMID: 35382152 PMCID: PMC8922577 DOI: 10.1177/2397198318779532] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2018] [Accepted: 05/08/2018] [Indexed: 08/26/2024]
Abstract
Musculoskeletal involvement, including arthritis and tendinopathy, is a common and important determinant of disability and impaired quality of life in systemic sclerosis. However, the treatment of arthritis in systemic sclerosis has not been studied as a primary outcome in randomized controlled trials, and arthritis-specific outcome measures for systemic sclerosis have not been sufficiently validated to date. Rheumatologists caring for patients with systemic sclerosis must address these complaints regularly despite the fact that the level of evidence for the treatment of systemic sclerosis-related inflammatory arthritis is limited. Consensus statements, based on treatments for related musculoskeletal aspects of rheumatoid arthritis, systemic lupus erythematosus, and other autoimmune diseases, support the use of methotrexate and hydroxychloroquine. Newer biologics, which have efficacy in the treatment of other autoimmune conditions, may show promise in the treatment of arthritis in systemic sclerosis. In this article, we review the current literature on the assessment and treatment of systemic sclerosis arthritis in order to address management considerations.
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Affiliation(s)
- Rebecca B Blank
- NewYork-Presbyterian/Weill Cornell Medicine Center, New York, NY, USA
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