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Chau P, Yoon JS, Moses D, Pather N. A systematic review and meta-analysis of portal vein morphometry in pediatric and adult populations: Drawing the line between normal and abnormal findings. Eur J Radiol 2023; 168:111016. [PMID: 37742371 DOI: 10.1016/j.ejrad.2023.111016] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2022] [Revised: 07/13/2023] [Accepted: 07/26/2023] [Indexed: 09/26/2023]
Abstract
PURPOSE The morphometry of the hepatic portal vein is of clinical importance, particularly in pre-operative assessments, surgical management, and diagnoses of liver conditions. This systematic review and meta-analysis aimed to characterize the morphometry of the normal portal vein in both pediatric and adult patients. METHODS The study, conducted using the PRISMA guidelines and registered with PROSPERO, utilized the MEDLINE, EMBASE, SCOPUS and Web of Science databases up to May 2020, and updated to May 2023. All studies reporting extractable data on diameter, length, and cross-sectional area (CSA) of the main, left, and right portal veins (PV, LPV, RPV, respectively) were included. The AQUA Tool was used to assess the quality of the included studies. Data analysis included subgroup analyses based on geographical location, sex, age, and imaging modality. RESULTS A total of 122 studies with 11,637 subjects were eligible for inclusion. Overall, the pooled mean diameter of the PV (PVD) was 10.09 mm (95% CI: 9.56-10.62). Significant differences in diameter were found between pediatric (6.60 mm; 95% CI: 5.38-7.82) and adult (10.72 mm; 95% CI: 10.25-11.19) subjects. Additionally, there was a significantly larger PVD measurement from computed tomography (CT) than other imaging modalities: CT, 13.28 mm (95% CI: 11.71-14.84); magnetic resonance imaging (MRI), 10.50 mm (95% CI: 9.35-11.66) and ultrasound (US), 9.81 mm (95% CI: 9.47-10.16). The mean diameters of the LPV and RPV were 8.27 mm (95% CI: 6.78-9.77) and 8.33 mm (95% CI: 6.70-9.95), respectively. Mean PV length in adults is 48.63 mm (95% CI: 35.63-61.64). Mean CSA of the PV was 1.09 cm2. CONCLUSIONS The study obtained aim to improve the understanding of portal vein anatomy, especially with relevance to surgical interventions of the liver in both pediatric and adult patients. Measurements from ultrasound imaging closely approximates the generated pooled PVD mean for pediatric and adult patients. CT imaging, however, significantly exceeded the established 13 mm threshold for adults. For pediatric patients, a threshold of 8 mm is proposed as a diagnostic upper limit for a normal PVD. Although not significant, the PVD decreased from the portal confluence towards its bifurcation.
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Affiliation(s)
- Patrick Chau
- Department of Anatomy, School of Biomedical Sciences, Faculty of Medicine and Health, UNSW Sydney, Sydney, Australia
| | - Ji Soo Yoon
- Department of Anatomy, School of Biomedical Sciences, Faculty of Medicine and Health, UNSW Sydney, Sydney, Australia
| | - Daniel Moses
- Department of Radiology, Prince of Wales Hospital, Sydney, Australia
| | - Nalini Pather
- Department of Anatomy, School of Biomedical Sciences, Faculty of Medicine and Health, UNSW Sydney, Sydney, Australia; Academy of Medical Education, Medical School, Faculty of Medicine, University of Queensland, Australia; Medical Education, Faculty of Medicine and Health, UNSW Sydney, Sydney, Australia.
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Guilhem A, Dupuis-Girod S, Espitia O, Rivière S, Seguier J, Kerjouan M, Lavigne C, Maillard H, Magro P, Alric L, Lipsker D, Parrot A, Leguy V, Vanlemmens C, Guibaud L, Vikkula M, Eyries M, Valette PJ, Giraud S. Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants. J Med Genet 2023; 60:905-909. [PMID: 36813543 DOI: 10.1136/jmg-2022-109107] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/09/2022] [Accepted: 01/30/2023] [Indexed: 02/24/2023]
Abstract
BACKGROUND EPHB4 loss of function is associated with type 2 capillary malformation-arteriovenous malformation syndrome, an autosomal dominant vascular disorder. The phenotype partially overlaps with hereditary haemorrhagic telangiectasia (HHT) due to epistaxis, telangiectases and cerebral arteriovenous malformations, but a similar liver involvement has never been described. METHODS Members of the French HHT network reported their cases of EPHB4 mutation identified after an initial suspicion of HHT. Clinical, radiological and genetic characteristics were analysed. RESULTS Among 21 patients with EPHB4, 15 had a liver imaging, including 7 with HHT-like abnormalities (2 female patients and 5 male patients, ages 43-69 years). Atypical epistaxis and telangiectases were noted in two cases each. They were significantly older than the eight patients with normal imaging (median: 51 vs 20 years, p<0.0006).The main hepatic artery was dilated in all the cases (diameter: 8-11 mm). Six patients had hepatic telangiectases. All kind of shunts were described (arteriosystemic: five patients, arterioportal: two patients, portosystemic: three patients). The overall liver appearance was considered as typical of HHT in six cases.Six EPHB4 variants were classified as pathogenic and one as likely pathogenic, with no specific hot spot. CONCLUSION EPHB4 loss-of-function variants can be associated with HHT-like hepatic abnormalities and should be tested for atypical HHT presentations.
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Affiliation(s)
- Alexandre Guilhem
- Service de Génétique, Centre de Référence pour la maladie de Rendu-Osler, CHU Lyon, Lyon, France
| | - Sophie Dupuis-Girod
- Service de Génétique, Centre de Référence pour la maladie de Rendu-Osler, CHU Lyon, Lyon, France
- Laboratory Biology of Cancer and Infection, CEA de Grenoble, Grenoble, France
| | - Olivier Espitia
- Department of Internal and Vascular Medicine, CHU Nantes, Nantes, France
| | - Sophie Rivière
- Médecine Interne et Maladies Multi-Organiques, CHU Montpellier, Montpellier, France
| | - Julie Seguier
- Département de Médecine Interne, Hôpital de la Timone, Marseille, France
| | | | | | - Hélène Maillard
- Service de Médecine Interne et Immunologie Clinique, CHU Lille, Lille, France
| | - Pascal Magro
- Service de Pneumologie, Hôpital Bretonneau, Tours, France
| | - Laurent Alric
- Médecine Interne, Département des Maladies Digestives, CHU Toulouse, Toulouse, France
| | - Dan Lipsker
- Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
| | | | - Vanessa Leguy
- Service de Médecine Interne et Immunologie Clinique, CHU Dijon, Dijon, France
| | - Claire Vanlemmens
- Service Hépatologie et soins intensifs digestifs, CHU Besancon, Besancon, France
| | - Laurent Guibaud
- Service d'Imagerie Médicale Pédiatrique et Foetale, CHU Lyon, Lyon, France
| | - Miikka Vikkula
- Human Molecular Genetics, de Duve Institute, Bruxelles, Belgium
| | - Melanie Eyries
- Genetics, Groupe Hospitalier Pitié-Salpétrière, AP-HP, Paris, France
| | | | - Sophie Giraud
- Service de Génétique, Centre de Référence pour la maladie de Rendu-Osler, CHU Lyon, Lyon, France
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Parrot A, Barral M, Amiot X, Bachmeyer C, Wagner I, Eyries M, Alamowitch S, Ederhy S, Epaud R, Dupuis-Girod S, Cadranel J. [Hereditary hemorrhagic telangiectasia]. Rev Mal Respir 2023; 40:391-405. [PMID: 37062633 DOI: 10.1016/j.rmr.2023.02.007] [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: 12/14/2022] [Accepted: 02/26/2023] [Indexed: 04/18/2023]
Abstract
Hereditary hemorrhagic telangiectasia, also known as Rendu-Osler - Weber disease, is a rare, autosomal dominant vascular disease, with prevalence of 1/5,000. The condition is characterized by muco-cutaneous telangiectasias, which are responsible for a hemorrhagic syndrome of variable severity, as well as arteriovenous malformations (AVMs) appearing in the lungs, the liver, and the nervous system. They can be the source of shunts, which may be associated with high morbidity (neurological ischemic stroke, brain abscess, high-output heart failure, biliary ischemia…). It is therefore crucial to establish a clinical diagnosis using the Curaçao criteria or molecular diagnosis based on genetic analysis of the ENG, ACVRL1, SMAD4 and GDF2 genes. In most cases, multidisciplinary management allows patients to have normal life expectancy. Advances in interventional radiology and better understanding of the pathophysiology of angiogenesis have resulted in improved therapeutic management. Anti-angiogenic treatments, such as bevacizumab (BVZ, an anti-VEGF antibody), have proven to be effective in cases involving bleeding complications and severe liver damage with cardiac repercussions. Other anti-angiogenic agents are currently being investigated, including tyrosine kinase inhibitors.
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Affiliation(s)
- A Parrot
- Service de pneumologie, centre de compétence de la maladie de Rendu-Osler, hôpital Tenon, AP-HP, 75020 Paris, France.
| | - M Barral
- Service de radiologie, hôpital Tenon, AP-HP, 75020 Paris, France; UFR médecine, Sorbonne université, 75006 Paris, France
| | - X Amiot
- Service de gastroentérologie, hôpital Tenon, AP-HP, 75020 Paris, France
| | - C Bachmeyer
- Service de médecine interne, hôpital Tenon, AP-HP, 75020 Paris, France
| | - I Wagner
- Service d'ORL, hôpital Tenon, AP-HP, 75020 Paris, France
| | - M Eyries
- Service de génétique, hôpital de la Pitié-Salpetrière, AP-HP, 75020 Paris, France
| | - S Alamowitch
- Service des urgences cérébrovasculaires, hôpital de la Pitié-Salpetrière, AP-HP, 75020 Paris, France
| | - S Ederhy
- Service de cardiologie et GRC no 27, hôpital Saint-Antoine, AP-HP, 75020 Paris, France
| | - R Epaud
- Service de pédiatrie, centre intercommunaux de Créteil, Créteil, France
| | - S Dupuis-Girod
- Service de génétique, centre de référence pour la maladie de Rendu-Osler, hospices civils de Lyon, hôpital Mère-Enfant, 69500 Bron, France
| | - J Cadranel
- Service de pneumologie, centre de compétence de la maladie de Rendu-Osler, hôpital Tenon, AP-HP, 75020 Paris, France; UFR médecine, Sorbonne université, 75006 Paris, France
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Green RJ, Swift AC. Hereditary haemorrhagic telangiectasia: an overview from an ear, nose and throat perspective. Br J Hosp Med (Lond) 2021; 82:1-9. [PMID: 34817255 DOI: 10.12968/hmed.2020.0560] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Abstract
Patients with hereditary haemorrhagic telangiectasia can present with a multitude of symptoms caused by telangiectasia and arteriovenous malformations in the nose, brain, gastrointestinal tract, liver and spinal cord. Clinicians should be aware of the potential diagnosis of hereditary haemorrhagic telangiectasia and how to manage these patients both in the acute and chronic setting. Identifying these patients and optimising their management can help reverse the reduced life expectancy back to that of the normal population. The management of these patients is complex and often requires a multidisciplinary approach, with difficult discussions to be had around screening for arteriovenous malformations and genetic testing. The stepwise management ladder can be used in both the medical and surgical strategies; there are multiple pharmacological and surgical options available, all with their own side effects and risks. Patient education is key to help informed decision making. This article outlines the clinical characteristics of the disease and management options available.
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Affiliation(s)
- Richard J Green
- Department of Otolaryngology, Ninewells Hospital, Dundee, UK
| | - Andrew C Swift
- Liverpool Head and Neck Centre, Liverpool University Hospitals NHS Foundation Trust, Liverpool, UK
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Naganuma H, Ishida H, Kuroda H, Suzuki Y, Ogawa M. Hereditary hemorrhagic telangiectasia: how to efficiently detect hepatic abnormalities using ultrasonography. J Med Ultrason (2001) 2020; 47:421-433. [PMID: 32390074 DOI: 10.1007/s10396-020-01022-w] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/03/2020] [Accepted: 03/30/2020] [Indexed: 12/12/2022]
Abstract
INTRODUCTION Hereditary hemorrhagic telangiectasia (HHT) is a multiorgan genetic angiodysplastic affection characterized by visceral vascular malformations. It affects mainly the brains, lungs, gastrointestinal tract, and nasal mucosa. Unlike those organs, hepatic involvement, although very frequently occurring, is insufficiently recognized, mainly because of the complex vascular structure of this organ. Thus, treating HHT patients requires a solid understanding of these hepatic anomalies. It is especially important for any general clinicians to be able to recognize clinical findings in HHT, which leads to a high suspicion of HHT and have an index of suspicion for liver abnormalities of HHT. For this purpose, keen awareness of clinical as well as hepatic sonographic (US) findings is paramount. AIM The aim of this review is to summarize previously reported findings on the hepatic US through a thorough analysis of related articles, and to (a) determine the role of US in the diagnosis of hepatic involvement in HHT patients and (b) propose the most simple and easy way to detect HHT-related abnormalities during routine US examinations. CONCLUSION Hepatic US serves to diagnose the detailed complex hepatic changes typical of HHT, and contributes to increased diagnostic confidence of hepatic changes in HHT patients, with the most simple way not to overlook HHT-related abnormalities being to find hepatic artery dilatation.
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Affiliation(s)
- Hiroko Naganuma
- Department of Gastroenterology, Yokote Municipal Hospital, 5-31 Negishi-cho, Yokote, Akita, 013-8602, Japan.
| | - Hideaki Ishida
- Center of Diagnostic Ultrasound, Akita Red Cross Hospital, Akita, Japan
| | - Hidekatsu Kuroda
- Division of Hepatology, Department of Internal Medicine, Iwate Medical University, Iwate, Japan
| | - Yasuaki Suzuki
- Department of Gastroenterology, Nayoro City General Hospital, Hokkaido, Japan
| | - Masahiro Ogawa
- Department of Gastroenterology and Hepatology, Nihon University Hospital, Tokyo, Japan
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Can we differentiate HIV-associated obliterative portopathy from liver cirrhosis using MRI? Eur Radiol 2019; 30:213-223. [PMID: 31410601 DOI: 10.1007/s00330-019-06391-6] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/03/2019] [Revised: 07/18/2019] [Accepted: 07/23/2019] [Indexed: 02/07/2023]
Abstract
AIM To describe the magnetic resonance imaging (MRI) features of HIV-associated obliterative portopathy (HIV-OP) and determine the most indicative appearance of this condition on MRI by using a retrospective case-control study. METHODS MRI examinations of 24 patients with HIV-OP (16 men, 8 women; mean age = 48 ± 6.6 [SD] years; age range, 35-71 years) were analyzed by two blinded observers and compared with those obtained in 18 HIV-infected patients with hepatic cirrhosis (14 men, 4 women; mean age = 51 ± 3.4 [SD] years; age range, 35-60 years). Images were qualitatively and quantitatively analyzed with respect to imaging presentation. Comparisons were performed using uni- and multivariate analyses. RESULTS Regular liver contours had the highest accuracy for the diagnosis of HIV-OP (83%, 35 of 42; 95% confidence interval [CI], 69-93%) and was the most discriminating independent variable for the diagnosis of HIV-OP (odds ratio, 51; 95%CI, 4.96-1272%) (p < 0.0001). At multivariate analysis, the width of segment 4 in millimeters (OR = 1.23 [95%CI, 1.05-1.44%]; p = 0.011) and the presence of regular liver contours (OR = 7.69 [95%CI, 1.48-39.92%]; p = 0.015) were the variables independently associated with the diagnosis of HIV-OP. CONCLUSIONS Regular liver contours are the most discriminating independent variable for the diagnosis of HIV-OP but have limited accuracy. Familiarity with this finding may help differentiate HIV-OP from cirrhosis in HIV-infected patients. KEY POINTS • Regular liver contour is the most discriminating independent variable for the diagnosis of HIV-OP (odds ratio = 51) with 83% accuracy. • At multivariate analysis, the width of segment 4 in millimeters and the presence of regular liver contours are the variables independently associated with the diagnosis of HIV-OP. • MRI helps diagnose HIV-OP in the presence of several categorical findings, which are more frequently observed in HIV-OP patients than in HIV patients with cirrhosis.
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de Picciotto C, El Hajjam M, Karam C, Chinet T, Bonay M. Pulmonary gas exchange in hereditary hemorrhagic telangiectasia patients with liver arteriovenous malformations. Respir Res 2019; 20:137. [PMID: 31272464 PMCID: PMC6611029 DOI: 10.1186/s12931-019-1106-y] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/27/2019] [Accepted: 06/20/2019] [Indexed: 01/25/2023] Open
Abstract
Background The severity of Hereditary Hemorrhagic Telangiectasia (HHT) disease is generally related to vascular visceral involvement represented by arteriovenous malformations (AVMs). Pulmonary function tests (PFTs) remain normal in HHT patients without Pulmonary AVMs (PAVMs) and respiratory comorbidity. The aim of our study was to compare the diffusing capacity of the lung for carbon monoxide (DLCO) and nitric oxide (DLNO) and its 2 components: the pulmonary capillary blood volume (Vc) and the alveolar-capillary membrane conductance (Dm), in HHT patients with PAVMs, PAVMs and liver AVMs (LAVMs), LAVMs without PAVM, no PAVM and LAVM, and controls. Methods Sixty one consecutive adult patients (HHT without PAVM and LAVM: n = 7; HHT with PAVMs: n = 8; HHT with PAVMs and LAVMs: n = 25; HHT with LAVMs: n = 21) and controls matched for age and sex ratio without respiratory, heart and liver pathology (n = 15) were non-invasively evaluated using PFTs, combined DLCO/DLNO, arterial blood gas at rest, contrast echocardiography and enhanced computed tomography scan of the liver and chest the day of pulmonary function testing. Results We found that patients with LAVMs but without PAVMs exhibited increased Vc/Dm ratio. Interestingly, HHT patients with hepatic artery enlargement showed higher Vc/Dm ratio than HHT patients with normal hepatic artery diameter. Conclusion Vc/Dm ratio may have practical impact in HHT patients’ management to detect precociously the occurrence of LVAMs. However, further studies are needed to assess the accuracy and potential prognostic value of pulmonary gas exchange measurements in HHT patients with LVAMs.
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Affiliation(s)
- Carole de Picciotto
- Service de Physiologie-Explorations Fonctionnelles Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), 92104 Boulogne cedex, Boulogne, France.,HHT center Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), Boulogne, France
| | - Mostafa El Hajjam
- HHT center Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), Boulogne, France.,Service de Radiologie Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), Boulogne, France
| | - Carma Karam
- HHT center Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), Boulogne, France.,Service de Cardiologie Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), Boulogne, France
| | - Thierry Chinet
- HHT center Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), Boulogne, France.,Service de Pneumologie Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), Boulogne, France
| | - Marcel Bonay
- Service de Physiologie-Explorations Fonctionnelles Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), 92104 Boulogne cedex, Boulogne, France. .,HHT center Hôpital Ambroise Paré Assistance Publique-Hôpitaux de Paris (AP-HP) Boulogne, France et Université de Versailles Saint Quentin (UVSQ), Boulogne, France.
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Welle CL, Welch BT, Brinjikji W, Ehman EC, Venkatesh SK, Johnson MP, Iyer VN, Leise MD, Wood CP. Abdominal manifestations of hereditary hemorrhagic telangiectasia: a series of 333 patients over 15 years. Abdom Radiol (NY) 2019; 44:2384-2391. [PMID: 30888464 DOI: 10.1007/s00261-019-01976-7] [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] [Indexed: 10/27/2022]
Abstract
PURPOSE Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multi-organ vascular disorder that commonly affects the gastrointestinal tract and the liver resulting in telangiectasias and arteriovenous malformations (AVMs). Previous studies looking at the prevalence of liver and abdominal organ involvement in HHT have been limited by differing imaging techniques and sample size limitations. We sought to define the prevalence of HHT related abdominal vascular abnormalities using optimized multiphasic contrast-enhanced abdominal computed tomography (CT) exams in a large cohort of HHT patients. METHODS Between January 2001 and May 2015; we identified a total of 333 consecutive HHT patients who had undergone a dedicated HHT protocol multiphase abdominal CT at our institution. The CT exams were reviewed by three board certified abdominal radiologists for the presence of vascular abnormalities involving the liver, pancreas, spleen, and other abdominal organs. Vascular abnormalities involving the liver were further categorized as telangiectasias, large confluent vascular masses, perfusion abnormalities, or hepatic shunts. RESULTS In patients with abdominal vascular abnormalities, the liver was the most commonly involved organ, with 180 out of 333 (54.1%) patients demonstrating at least one hepatic vascular abnormality (telangiectasia, confluent vascular mass, transient perfusion abnormalities, and hepatic shunts), with most (70.0%) demonstrating multiple hepatic vascular abnormalities. The other most common organs involved included the pancreas (18.0%), spleen (6.3%), and small bowel (4.5%). CONCLUSION In patients with the clinical diagnosis of HHT, greater than half demonstrate an abdominal vascular abnormality, with the most commonly involved organ being the liver. These may be under recognized on routine or single phase contrast-enhanced CT of the abdomen. This supports the use of optimized multiphasic abdominal CT exams as an important tool for the evaluation and screening of patients with HHT.
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Sacco KM, Barkley TW. Hereditary Hemorrhagic Telangiectasia: A Primer for Critical Care Nurses. Crit Care Nurse 2018; 36:36-48. [PMID: 27252100 DOI: 10.4037/ccn2016270] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/01/2022]
Abstract
Hereditary hemorrhagic telangiectasia is a rare, autosomal dominant genetic disease that causes abnormal growth of blood vessels and, subsequently, life-threatening arteriovenous malformations in vital organs. Epistaxis may be one of the initial clues that a patient has more serious, generalized arteriovenous malformations. Recommended treatment involves careful evaluation to determine the severity and risk of spontaneous rupture of the malformations and the management of various signs and symptoms. The disease remains undiagnosed in many patients, and health care providers may miss the diagnosis until catastrophic events happen in multiple family members. Prompt recognition of hereditary hemorrhagic telangiectasia and early intervention can halt the dangerous course of the disease. Critical care nurses can assist with early diagnosis within families with this genetic disease, thus preventing early death and disability.
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Affiliation(s)
- Kathleen M Sacco
- Kathleen M. Sacco is the director, Intensive Care Unit and Cardiopulmonary Services, Simi Valley Hospital, Simi Valley, California.Thomas W. Barkley, Jr, is president of Barkley and Associates, West Hollywood, California.
| | - Thomas W Barkley
- Kathleen M. Sacco is the director, Intensive Care Unit and Cardiopulmonary Services, Simi Valley Hospital, Simi Valley, California.Thomas W. Barkley, Jr, is president of Barkley and Associates, West Hollywood, California
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Martín-Llahí M, Albillos A, Bañares R, Berzigotti A, García-Criado MÁ, Genescà J, Hernández-Gea V, Llop-Herrera E, Masnou-Ridaura H, Mateo J, Navascués CA, Puente Á, Romero-Gutiérrez M, Simón-Talero M, Téllez L, Turon F, Villanueva C, Zarrabeitia R, García-Pagán JC. Enfermedades vasculares del hígado. Guías Clínicas de la Sociedad Catalana de Digestología y de la Asociación Española para el Estudio del Hígado. GASTROENTEROLOGIA Y HEPATOLOGIA 2017; 40:538-580. [PMID: 28610817 DOI: 10.1016/j.gastrohep.2017.03.011] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/13/2017] [Accepted: 03/29/2017] [Indexed: 12/11/2022]
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Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D. Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature. Dig Dis Sci 2017; 62:2623-2630. [PMID: 28836046 PMCID: PMC5641264 DOI: 10.1007/s10620-017-4719-3] [Citation(s) in RCA: 41] [Impact Index Per Article: 5.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/31/2016] [Accepted: 08/09/2017] [Indexed: 12/28/2022]
Abstract
Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.
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Affiliation(s)
- Samuel B Jackson
- Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
- Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
- Division of Gastroenterology, Hepatology and Parenteral Nutrition, Department of Veterans Affairs, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd., Los Angeles, CA, 90073, USA
| | - Nicholas P Villano
- Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
- Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
- Division of Gastroenterology, Hepatology and Parenteral Nutrition, Department of Veterans Affairs, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd., Los Angeles, CA, 90073, USA
| | - Jihane N Benhammou
- Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
- Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
- Division of Gastroenterology, Hepatology and Parenteral Nutrition, Department of Veterans Affairs, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd., Los Angeles, CA, 90073, USA
| | - Michael Lewis
- Department of Pathology and Laboratory Medicine, Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
| | - Joseph R Pisegna
- Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
- Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
- Division of Gastroenterology, Hepatology and Parenteral Nutrition, Department of Veterans Affairs, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd., Los Angeles, CA, 90073, USA
| | - David Padua
- Division of Digestive Diseases, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
- Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
- Division of Gastroenterology, Hepatology and Parenteral Nutrition, Department of Veterans Affairs, VA Greater Los Angeles Healthcare System (691/111C), 11301 Wilshire Blvd., Los Angeles, CA, 90073, USA.
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Cavel A, Bleuzen A, Bertrand P, Patat F, Cottier JP. Comparison between Doppler ultrasonography and multiphase multidetector-row computed tomography in the detection of liver involvement in Rendu-Osler disease: An analysis of 62 patients. Diagn Interv Imaging 2016; 97:451-9. [DOI: 10.1016/j.diii.2014.01.023] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/27/2013] [Revised: 01/07/2014] [Accepted: 01/16/2014] [Indexed: 12/14/2022]
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Dohan A, Dautry R, Guerrache Y, Fargeaudou Y, Boudiaf M, Le Dref O, Sirol M, Soyer P. Three-dimensional MDCT angiography of splanchnic arteries: Pearls and pitfalls. Diagn Interv Imaging 2015; 96:187-200. [DOI: 10.1016/j.diii.2014.06.011] [Citation(s) in RCA: 28] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/17/2023]
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Tana C, Dietrich CF, Badea R, Chiorean L, Carrieri V, Schiavone C. Contrast-enhanced ultrasound in portal venous system aneurysms: a multi-center study. World J Gastroenterol 2014; 20:18375-18383. [PMID: 25561805 PMCID: PMC4277975 DOI: 10.3748/wjg.v20.i48.18375] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/27/2014] [Revised: 06/18/2014] [Accepted: 09/12/2014] [Indexed: 02/07/2023] Open
Abstract
AIM To investigate contrast-enhanced ultrasound (CEUS) findings in portal venous system aneurysms (PVSAs). METHODS In this multi-center, retrospective, case series study, we evaluated CEUS features of seven cases of PVSAs that were found incidentally on conventional ultrasound in the period 2007-2013. Three Ultrasound Centers were involved (Chieti, Italy, Bad Mergentheim, Germany, and Cluj-Napoca, Romania). All patients underwent CEUS with Sonovue(®) (Bracco, Milan, Italy) at a standard dose of 2.4 mL, followed by 10 mL of 0.9% saline solution. The examinations were performed using multifrequency transducers and low mechanical index. We considered aneurysmal a focal dilatation of the portal venous system with a size that was significantly greater than the remaining segments of the same vein, and that was equal or larger than 21 mm for the extrahepatic segments of portal venous system, main portal vein and bifurcation, and 9 mm for the intrahepatic branches. RESULTS After contrast agent injection, all PVSAs were not enhanced in the arterial phase (starting 8-22 s). All PVSAs were then rapidly enhanced in the early portal venous phase (starting three to five seconds after the arterial phase, 11-30 s), with persistence and slow washout of the contrast agent in the late phase (starting 120 s). In all patients, CEUS confirmed the presence of a "to-and-fro" flow by showing a swirling pattern within the dilatation in the early portal venous phase. CEUS also improved the delineation of the lumen, and was reliable in showing its patency degree and integrity of walls. In one patient, CEUS showed a partial enhancement of the lumen with a uniformly nonenhancing area in the portal venous and late phases, suggesting thrombosis. CONCLUSION In our case series, we found that CEUS could be useful in the assessment and follow-up of a PVSA. Further studies are needed to validate its diagnostic accuracy.
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