|
1
|
Choed-Amphai C, Kusontammarat P, Chanthong S, Arkarattanakul N, Rodchaprom P, Sathitsamitphong L, Natesirinilkul R, Charoenkwan P. Clinical course and management of hypertriglyceridemia thalassemia syndrome: A case-based systematic review. World J Clin Pediatr 2025; 14:101543. [DOI: 10.5409/wjcp.v14.i2.101543] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/18/2024] [Revised: 02/21/2025] [Accepted: 03/05/2025] [Indexed: 03/18/2025] Open
Abstract
BACKGROUND Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia. It typically presents with a combination of profound anemia and milky serum. Although previous case series have demonstrated the benefit of blood transfusions in reducing serum triglycerides, information regarding clinical outcomes and standard management in this setting remains limited.
AIM To identify the clinical course, treatment strategies, and outcomes of patients with hypertriglyceridemia thalassemia syndrome.
METHODS We performed a comprehensive search of the Scopus, PubMed, and Embase databases. We included only English-language articles and did not apply any publication date limits. The databases were last accessed on September 1, 2024. This study was registered under number CRD420250587918 and included studies involving children and adults with thalassemia, hypertriglyceridemia, and available data on clinical course.
RESULTS A total of 14 publications were included in the analysis, all of which were case reports or case series. No higher-quality evidence was available. Among 28 children with hypertriglyceridemia thalassemia syndrome, there were 22 cases of β-thalassemia major and 6 cases of hemoglobin E/β-thalassemia, including our illustrative case. The median age of onset was 11 months, and 92.3% of cases presented prior to the first blood transfusion. The common clinical manifestations included pallor (100%) and hepatosplenomegaly (67.9%). For hypertriglyceridemia-related symptoms, lipemia retinalis and xanthomas were observed in 25.0% and 10.7% of cases, respectively. The median hemoglobin level was 5.5 g/dL, while the median triglyceride level was 935 mg/dL. For management, 92.9% of cases received blood transfusions with or without other interventions. At a median of 12 months’ follow-up, all patients responded to the treatment without lipid-lowering agents, and 85.7% of cases were alive.
CONCLUSION Hypertriglyceridemia thalassemia syndrome occurs exclusively in young children and usually presents with anemia and severe hypertriglyceridemia prior to the first transfusion. Management with blood transfusions provides a favorable response. However, long-term regular monitoring is warranted.
Collapse
Affiliation(s)
- Chane Choed-Amphai
- Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
| | - Pattranan Kusontammarat
- Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
| | - Supapitch Chanthong
- Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
| | - Nattawan Arkarattanakul
- Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
| | | | - Lalita Sathitsamitphong
- Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
| | - Rungrote Natesirinilkul
- Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
| | - Pimlak Charoenkwan
- Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
- Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand
| |
Collapse
|
|
2
|
Chen Y, Wang Y, Ni B, Ying G, Zhang J. Relationship between Helicobacter pylori and hypertriglyceridemia in the population. J Clin Lipidol 2025:S1933-2874(25)00054-6. [PMID: 40157863 DOI: 10.1016/j.jacl.2025.03.002] [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: 12/18/2024] [Revised: 02/04/2025] [Accepted: 03/01/2025] [Indexed: 04/01/2025]
Abstract
BACKGROUND Hypertriglyceridemia (HTG) is a prevalent metabolic disorder closely linked to cardiovascular diseases, diabetes, and other metabolic conditions. However, research examining the relationship between Helicobacter pylori (H. pylori) and HTG is limited. This study aimed to investigate the influence of H. pylori on HTG. METHODS The study participants were individuals who underwent health examinations at Taizhou Hospital between 2017 and 2024. The subjects underwent hematological tests, anthropometric measurements, and urea breath tests. Logistic regression analysis was used to assess the relationship between H. pylori and HTG. Kaplan-Meier curves were utilized to compare HTG incidence between groups, and Cox regression models were applied to calculate associated hazard ratios. RESULTS Logistic regression confirmed that H. pylori was a risk factor for HTG. Further cohort study indicated that prolonged H. pylori infection increased the risk of HTG, whereas H. pylori eradication led to a decrease in HTG incidence. Subgroup analyses demonstrated that the impact of H. pylori on HTG did not exhibit heterogeneity. CONCLUSION H. pylori was associated with an increased risk of HTG, and its eradication was crucial for reducing this risk.
Collapse
Affiliation(s)
- Yi Chen
- Department of Gastroenterology, Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Taizhou, China (Drs Chen and Wang)
| | - Yi Wang
- Department of Gastroenterology, Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Taizhou, China (Drs Chen and Wang)
| | - Bingqian Ni
- Department of Otolaryngology, Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Taizhou, China (Dr Ni)
| | - Guoli Ying
- Department of Gastroenterology, Xianju County Hospital of Traditional Chinese Medicine, Taizhou, China (Dr Ying)
| | - Jinshun Zhang
- Home Ward, Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Taizhou, China (Dr Zhang); Health Management Center, Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Taizhou, China (Dr Zhang).
| |
Collapse
|
|
3
|
Mendes C, Loureiro T, Villela D, Bittencourt MI, Sobreira J, Bermeo D, Gomes M, Alencar D, de Castro LSS, Fock RA, Tinoco ML, Galvão H, Scapulatempo-Neto C, Schiavetti K, Senerchia AA, Gurgel MHC. Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil. Mol Genet Metab Rep 2024; 40:101100. [PMID: 38933898 PMCID: PMC11201343 DOI: 10.1016/j.ymgmr.2024.101100] [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: 12/30/2023] [Revised: 05/26/2024] [Accepted: 05/28/2024] [Indexed: 06/28/2024] Open
Abstract
Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. It is well stablished that the severe cases of disease often present with an underlying genetic cause. In this study, we determined the frequency and variation spectrum of genes involved in the triglyceride metabolism in a series of Brazilian patients with severe HTG. A total of 212 patients with very high HTG, defined with fasting triglycerides (TG) ≥ 880 mg/ dL, that underwent a multi-gene panel testing were included in this research. Germline deleterious variants (i.e. Pathogenic/Likely Pathogenic (P/LP) variants) were identified in 28 out of 212 patients, reflecting an overall diagnostic yield of 13% in our cohort. Variants of unknown significance (VUS) were identified in 87 patients, and represent 80% of detected variants in this dataset. We confirm the LPL as the most frequently mutated gene in patients with severe HTG, and we had only one suspected case of familial chylomicronemia syndrome, caused by a homozygous variant in LMF1, in our cohort. Notably, we report 16 distinct and novel variants (P/LP and VUS), each of them representing a single case, not previously reported in any public databases or other studies. Our data expand our knowledge of genetic variation spectrum in patients with severe HTG in the Brazilian population, often underrepresented in public genomic databases, being also a valuable clinical resource for genetic counseling and healthcare programs in the country.
Collapse
Affiliation(s)
- Camila Mendes
- Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil
| | | | - Darine Villela
- Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil
| | | | | | - Diana Bermeo
- Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil
| | - Mireille Gomes
- Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil
| | - Dayse Alencar
- Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil
| | | | | | | | | | | | | | | | | |
Collapse
|
|
4
|
Ain Q, Cevc M, Marusic T, Sikonja J, Sadiq F, Sustar U, Mlinaric M, Kovac J, Batool H, Khan MI, Trebusak Podkrajsek K, Bizjan BJ, Battelino T, Fras Z, Ajmal M, Groselj U. Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review. Front Endocrinol (Lausanne) 2024; 15:1387419. [PMID: 38911039 PMCID: PMC11190153 DOI: 10.3389/fendo.2024.1387419] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/17/2024] [Accepted: 05/21/2024] [Indexed: 06/25/2024] Open
Abstract
Introduction Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents with severe symptoms including acute pancreatitis, xanthomas, and lipemia retinalis. Methods We described the clinical characteristics of three Slovenian patients (an 8-year-old female, an 18-year-old man, and a 57-year-old female) and one Pakistani patient (a 59-year-old male) with LPL deficiency. We performed next-generation sequencing (NGS) targeting all coding exons and intron-exon boundaries of the LPL gene, and Sanger sequencing for variant confirmation. In addition, we performed a systematic literature review of all cases with three identified variants and described their clinical characteristics. Results Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol/L. An asymptomatic Pakistani patient with TG values of 36.8 mmol/L until the age of 44 years, was identified as heterozygous for a pathogenic variant NM_000237.3:c.724G>A (p.Asp242Asn). His TG levels dropped to 12.7 mmol/L on dietary modifications and by using fibrates. A Slovenian patient who first suffered from pancreatitis at the age of 18 years with a TG value of 34 mmol/L was found to be homozygous for NM_000237.3:c.337T>C (p.Trp113Arg). Conclusions Patients with LPL deficiency had high TG levels at diagnosis. Homozygous patients had worse outcomes. Good diet and medication compliance can reduce severity.
Collapse
Affiliation(s)
- Quratul Ain
- Translational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan
- Directorate of Research, Shifa Tameer-e-Millat University, Islamabad, Pakistan
| | - Matija Cevc
- Division of Medicine, Centre for Preventive Cardiology, University Medical Centre Ljubljana, Ljubljana, Slovenia
| | - Tatiana Marusic
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
| | - Jaka Sikonja
- Department of Endocrinology, Diabetes and Metabolic Diseases, Division of Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia
- Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
| | - Fouzia Sadiq
- Directorate of Research, Shifa Tameer-e-Millat University, Islamabad, Pakistan
| | - Ursa Sustar
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
| | - Matej Mlinaric
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
| | - Jernej Kovac
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
| | - Hijab Batool
- Department of Clinical Chemistry and Immunology, Chughtai Institute of Pathology, Lahore, Pakistan
| | - Mohammad Iqbal Khan
- Directorate of Research, Shifa Tameer-e-Millat University, Islamabad, Pakistan
- Department of Vascular Surgery, Shifa International Hospital, Islamabad, Pakistan
| | - Katarina Trebusak Podkrajsek
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
- Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
| | - Barbara Jenko Bizjan
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
| | - Tadej Battelino
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
- Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
| | - Zlatko Fras
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
- Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
| | - Muhammad Ajmal
- Translational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan
| | - Urh Groselj
- Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
- Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
| |
Collapse
|
|
5
|
Habib S. Metabolic dysfunction-associated steatotic liver disease heterogeneity: Need of subtyping. World J Gastrointest Pathophysiol 2024; 15:92791. [PMID: 38845820 PMCID: PMC11151879 DOI: 10.4291/wjgp.v15.i2.92791] [Citation(s) in RCA: 4] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/05/2024] [Revised: 04/04/2024] [Accepted: 04/24/2024] [Indexed: 05/23/2024] Open
Abstract
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a widespread global disease with significant health burden. Unhealthy lifestyle, obesity, diabetes mellitus (DM), insulin resistance, and genetics have been implicated in the pathogenesis of MASLD. A significant degree of heterogeneity exists among each of above-mentioned risk factors. Heterogeneity of these risk factors translates into the heterogeneity of MASLD. On the other hand, MASLD can itself lead to insulin resistance and DM. Such heterogeneity makes it difficult to assess the natural course of an individual with MASLD in clinical practice. At present MASLD is considered as one disease despite the variability of etiopathogenic processes, and we lack the consensus definitions of unique subtypes of MASLD. In this review, pathogenic processes of MASLD are discussed and a need of subtyping is recommended.
Collapse
Affiliation(s)
- Shahid Habib
- Department of Hepatology, Liver Institute PLLC, Tucson, AZ 85716, United States
| |
Collapse
|
|
6
|
Ortega E, Vlacho B, Treserres RP, Mata-Cases M, Altes A, Mauricio D, Franch-Nadal J. Severe hypertriglyceridemia prevalence at a primary care setting in Catalonia, Spain. J Clin Lipidol 2023; 17:777-787. [PMID: 37741728 DOI: 10.1016/j.jacl.2023.09.002] [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: 05/02/2023] [Revised: 07/31/2023] [Accepted: 09/01/2023] [Indexed: 09/25/2023]
Abstract
BACKGROUND Hypertriglyceridemia (HTG) increases the risk of cardiovascular disease and pancreatitis, and its prevalence varies across populations. OBJECTIVE To determine the prevalence of moderate-to-severe hypertriglyceridemia (msHTG, 500-879 mg/dl) and severe hypertriglyceridemia (sHTG, ≥ 880 mg/dl) in a primary care population in Catalonia, Spain, and to categorize them according to presence/absence of factors potentially causing HTG. METHODS Retrospective analysis of clinical and laboratory data in SIDIAP (Information System for the Development of Primary Care Research) from 2010, 2013, 2016, and 2019. We considered medications with hypolipidemic effects and those potentially increasing TG levels. We developed logistic regression models adjusted by age and sex to calculate the probability of having ms/sHTG according to covariates of interest. RESULTS In the study years, 36.2‒42.0% of the >3.5 million active primary care users had ≥1 TG determination. Prevalence for msHTG was 0.7% and for sHTG 0.2% among those with recorded TG. In 2019, 54.7% were female; median (IQR) age was 62.5 (49.4‒73.7) years. Prevalence was higher in 36‒50-year-old persons (1.3% msHTG, 0.4% sHTG) and men (1.1% msHTG, 0.3% sHTG). Most cases were associated with secondary and <20% with non-secondary causes, the latter being most prevalent in young patients. The secondary causes more strongly associated with msHTG/sHTG were obesity, uncontrolled diabetes mellitus (DM) and gamma-glutamyl transferase >100 U/L. CONCLUSION The prevalence of msHTG was 0.7% and that of sHTG was 0.2% between 2010 and 2019 among individuals with recorded TG. msHTG/sHTG most often affected men around their fifties and people with obesity and uncontrolled DM. Most msHTG and sHTG cases were associated with the presence of secondary causes.
Collapse
Affiliation(s)
- Emilio Ortega
- DAP-Cat group, Unitat de Suport a la Recerca Barcelona, Fundació Institut Universitari per a la recerca a l'Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), Barcelona, Spain; Lipid and Vascular Risk Unit, Endocrinology and Nutrition Department, Hospital Clinic Barcelona, Spain; CIBER of Physiopathology of Obesity and Nutrition (CIBEROBN), Instituto de Salud Carlos III (ISCIII), Spain.
| | - Bogdan Vlacho
- DAP-Cat group, Unitat de Suport a la Recerca Barcelona, Fundació Institut Universitari per a la recerca a l'Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), Barcelona, Spain
| | - Ray Puig Treserres
- DAP-Cat group, Unitat de Suport a la Recerca Barcelona, Fundació Institut Universitari per a la recerca a l'Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), Barcelona, Spain
| | - Manel Mata-Cases
- DAP-Cat group, Unitat de Suport a la Recerca Barcelona, Fundació Institut Universitari per a la recerca a l'Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), Barcelona, Spain; Primary Health Care Center, Gerència d'Àmbit d'Atenció Primària Barcelona Ciutat, Institut Català de la Salut, Barcelona, Spain
| | - Andreu Altes
- Primary Health Care Center, Gerència d'Àmbit d'Atenció Primària Barcelona Ciutat, Institut Català de la Salut, Barcelona, Spain
| | - Dídac Mauricio
- DAP-Cat group, Unitat de Suport a la Recerca Barcelona, Fundació Institut Universitari per a la recerca a l'Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), Barcelona, Spain; CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM), Instituto de Salud Carlos III (ISCIII), Spain; Department of Endocrinology and Nutrition, Hospital Universitari de la Santa Creu i Sant Pau, Barcelona, Spain; Departament of Medicine, University of Vic - Central University of Catalonia, Vic, Barcelona, Spain
| | - Josep Franch-Nadal
- DAP-Cat group, Unitat de Suport a la Recerca Barcelona, Fundació Institut Universitari per a la recerca a l'Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), Barcelona, Spain; Primary Health Care Center, Gerència d'Àmbit d'Atenció Primària Barcelona Ciutat, Institut Català de la Salut, Barcelona, Spain; CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM), Instituto de Salud Carlos III (ISCIII), Spain
| |
Collapse
|
|
7
|
Rodriguez FH, Estrada JM, Quintero HMA, Nogueira JP, Porras-Hurtado GL. Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010-2020: a cross-sectional study. Lipids Health Dis 2023; 22:43. [PMID: 36978188 PMCID: PMC10045250 DOI: 10.1186/s12944-022-01768-x] [Citation(s) in RCA: 7] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/11/2022] [Accepted: 12/28/2022] [Indexed: 03/30/2023] Open
Abstract
BACKGROUND AND AIM Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations in genes involved in chylomicron metabolism. On the other hand, multifactorial chylomicronemia syndrome (MCS) is a polygenic disorder and the most frequent cause of chylomicronemia, which results from the presence of multiple genetic variants related to chylomicron metabolism, in addition to secondary factors. Indeed, the genetic determinants that predispose to MCS are the presence of a heterozygous rare variant or an accumulation of several SNPs (oligo/polygenic). However, their clinical, paraclinical, and molecular features are not well established in our country. The objective of this study was to describe the development and results of a screening program for severe hypertriglyceridemia in Colombia. METHODS A cross-sectional study was performed. All patients aged >18 years with triglyceride levels ≥500 mg/dL from 2010 to 2020 were included. The program was developed in three stages: 1. Review of electronic records and identification of suspected cases based on laboratory findings (triglyceride levels ≥500 mg/dL); 2. Identification of suspected cases based on laboratory findings that also allowed us to exclude secondary factors; 3. Patients with FCS scores <8 were excluded. The remaining patients underwent molecular analysis. RESULTS In total, we categorized 2415 patients as suspected clinical cases with a mean age of 53 years, of which 68% corresponded to male patients. The mean triglyceride levels were 705.37 mg/dL (standard deviation [SD] 335.9 mg/dL). After applying the FCS score, 2.4% (n = 18) of patients met the probable case definition and underwent a molecular test. Additionally, 7 patients had unique variants in the APOA5 gene (c.694 T > C; p. Ser232Pro) or in the GPIHBP1 gene (c.523G > C; p. Gly175Arg), for an apparent prevalence of familial chylomicronemia in the consulting population of 0.41 per 1.000 patients with severe HTG measurement. No previously reported pathogenic variants were detected. CONCLUSION This study describes a screening program for the detection of severe hypertriglyceridemia. Although we identified seven patients as carriers of a variant in the APOA5 gene, we diagnosed only one patient with FCS. We believe that more programs of these characteristics should be developed in our region, given the importance of early detection of this metabolic disorder.
Collapse
Affiliation(s)
- Franklin Hanna Rodriguez
- International Center Research In Health Comfamiliar, Comfamiliar Risaralda, Pereira, Risaralda, Colombia.
| | - Jorge Mario Estrada
- International Center Research In Health Comfamiliar, Comfamiliar Risaralda, Pereira, Risaralda, Colombia
| | | | | | | |
Collapse
|
|
8
|
Martín Pérez S, Arrobas Velilla T, Fabiani de la Iglesia J, Vázquez Rico I, Varo Sánchez G, León-Justel A. Geostatistical analysis from the clinical laboratory in cardiovascular prevention for primary care. CLINICA E INVESTIGACION EN ARTERIOSCLEROSIS : PUBLICACION OFICIAL DE LA SOCIEDAD ESPANOLA DE ARTERIOSCLEROSIS 2023; 35:75-84. [PMID: 36184300 DOI: 10.1016/j.arteri.2022.08.003] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 05/04/2022] [Revised: 08/06/2022] [Accepted: 08/08/2022] [Indexed: 04/21/2023]
Abstract
INTRODUCTION AND OBJECTIVES Cardiovascular diseases continue to lead the ranking of mortality in Spain. The implementation of geostatistical analysis techniques in the clinical laboratory are innovative tools that allow the design of new strategies in primary prevention of cardiovascular disease. The aim of this study was to study the prevalence and geolocation of severe dyslipidemia in the health areas under study in order to implement prevention strategies in primary care. A retrospective cohort study of low-density protein-bound cholesterol, triglyceride and lipoprotein (a) levels in the years 2019 and 2020 were carried out. In addition, a geostatistical analysis was performed including representation in choropleth maps and the detection of clustering clusters, using geographic information in zip code format included in the demographic data of each analytic. RESULTS The analytical data included in the study were triglycerides (n=365,384), low density protein-bound cholesterol (n=289,594) and lipoprotein to lipoprotein (a) (n=502). Areas with the highest and lowest percentage of cases were identified for the established cut-off points of LDL-C>190mg/dL and TG>150mg/dL. Two clustering clusters with statistical significance were detected for cLDL>190mg/dL and a total of 6 clusters for TG values>150mg/dL. CONCLUSIONS The detection of clusters, as well as the representation of choropleth maps, can be of great help in detecting geographic areas that require greater attention to intervene and improve cardiovascular risk.
Collapse
Affiliation(s)
- Salomón Martín Pérez
- Laboratorio de Nutrición y Riesgo Cardiovascular, Unidad de Bioquímica Clínica, Hospital Universitario Virgen Macarena, Sevilla, España.
| | - Teresa Arrobas Velilla
- Laboratorio de Nutrición y Riesgo Cardiovascular, Unidad de Bioquímica Clínica, Hospital Universitario Virgen Macarena, Sevilla, España
| | | | - Ignacio Vázquez Rico
- Laboratorio de Análisis Clínicos, Unidad de Lípidos, Hospital Juan Ramón Jiménez, Huelva, España
| | - Gema Varo Sánchez
- Laboratorio de Análisis Clínicos, Hospital comarcal Riotinto, Huelva, España
| | - Antonio León-Justel
- Unidad de Bioquímica Clínica, Hospital Universitario Virgen Macarena, Sevilla, España
| |
Collapse
|
|
9
|
Oliván-Blázquez B, Bartolomé-Moreno C, Gericó-Aseguinolaza J, Méndez-López F, Lerma-Irureta D, Lamiquiz-Moneo I, Fernández-Martínez S, Magallón-Botaya R. Relationship between initial symptoms and the prognosis, sex, and demographic area of patients with COVID-19. Front Med (Lausanne) 2022; 9:1040062. [PMID: 36590935 PMCID: PMC9795186 DOI: 10.3389/fmed.2022.1040062] [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: 09/08/2022] [Accepted: 11/21/2022] [Indexed: 12/15/2022] Open
Abstract
Background A method of determining the initial symptoms and main prognostic identifiers for COVID-19 can be a key tool for physicians, especially primary care physicians. Therefore, the objective of this study was to examine the prognosis of patients with COVID-19 from two different demographic regions according to baseline and main symptoms, age, and sex. Methods All individuals selected from both urban and rural health centers were over 18 years of age, had COVID-19 before 2 March 2021, and were followed up with a primary care physician. All patients included in this study were recruited in terms of sex, age at the time of infection, type of contact, baseline symptoms, primary and secondary symptomatology, emergency assistance, hospitalization, intensive care unit (ICU) admission, and death. Results A total of 219 and 214 subjects were recruited from rural and urban health centers, respectively. Subjects with COVID-19 from rural areas were significantly older in age, with a higher proportion of men, and had significantly lower baseline and main symptoms than those from urban areas. In addition, the presence of both fever and dyspnea as the initial or main symptom is significantly associated with emergency assistance, hospitalization, and death, regardless of sex, age, and demographic area. This type of illness was reported to be significantly less frequent in the rural population than in the urban population. Conclusion The presence of both fever and dyspnea as both initial and main symptoms is a poor prognostic factor for COVID-19, regardless of age, sex, and demographic areas. In addition, women reported lower levels of fever and dyspnea, requiring minimal emergency assistance and fewer hospitalization, and a lower rate of mortality than men. During a COVID-19 infection follow-up, subjects in rural areas seem to have less access to medical care than those in urban areas.
Collapse
Affiliation(s)
- Bárbara Oliván-Blázquez
- Department of Psychology and Sociology, University of Zaragoza, Zaragoza, Spain
- Group B21-20R, Health Research Institute of Aragon (IISA), Zaragoza, Spain
- Network for Research on Chronicity, Primary Care and Health Promotion (RICAPPS) RD21/0016/0001, Zaragoza, Spain
| | - Cruz Bartolomé-Moreno
- Group B21-20R, Health Research Institute of Aragon (IISA), Zaragoza, Spain
- Network for Research on Chronicity, Primary Care and Health Promotion (RICAPPS) RD21/0016/0001, Zaragoza, Spain
- Aragonese Healthcare Service, Zaragoza, Spain
- Aragonese Healthcare Service, Department of Family and Community Care Teaching- Sector I, Zaragoza, Spain
| | | | - Fátima Méndez-López
- Group B21-20R, Health Research Institute of Aragon (IISA), Zaragoza, Spain
- Network for Research on Chronicity, Primary Care and Health Promotion (RICAPPS) RD21/0016/0001, Zaragoza, Spain
- Department of Medicine, Psychiatry and Dermatology, Faculty of Medicine, University of Zaragoza, Zaragoza, Spain
| | - David Lerma-Irureta
- Department of Medicine, Psychiatry and Dermatology, Faculty of Medicine, University of Zaragoza, Zaragoza, Spain
| | - Itziar Lamiquiz-Moneo
- Miguel Servet University Hospital, Health Research Institute of Aragon (IISA), Zaragoza, Spain
- Department of Human Anatomy and Histology, Faculty of Medicine, University of Zaragoza, Zaragoza, Spain
| | | | - Rosa Magallón-Botaya
- Group B21-20R, Health Research Institute of Aragon (IISA), Zaragoza, Spain
- Network for Research on Chronicity, Primary Care and Health Promotion (RICAPPS) RD21/0016/0001, Zaragoza, Spain
- Aragonese Healthcare Service, Zaragoza, Spain
- Department of Medicine, Psychiatry and Dermatology, Faculty of Medicine, University of Zaragoza, Zaragoza, Spain
| |
Collapse
|
|
10
|
Sakboonyarat B, Poovieng J, Jongcherdchootrakul K, Srisawat P, Hatthachote P, Mungthin M, Rangsin R. Prevalence of hypertriglyceridemia among Royal Thai Army personnel and its related cardiometabolic risk factors, from 2017 to 2021. BMC Public Health 2022; 22:1569. [PMID: 35978422 PMCID: PMC9387031 DOI: 10.1186/s12889-022-13992-2] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/10/2022] [Accepted: 08/10/2022] [Indexed: 11/17/2022] Open
Abstract
Background Hypertriglyceridemia is a common health problem independently associated with an increased risk of atherosclerosis cardiovascular diseases (ASCVD), including ischemic heart disease and stroke. This study aims to determine the prevalence of hypertriglyceridemia among Royal Thai Army (RTA) personnel and its behavioral and cardiometabolic risk factors using the RTA personnel database of the physical health examination from 2017 to 2021. Methods A serial cross-sectional study was conducted from 2017 to 2021. A total of 257,683 active-duty RTA personnel aged 35–60 years were included in the study. We defined hypertriglyceridemia as fasting triglyceride ≥150 mg/dL. Moreover, we performed a multivariable logistic regression analysis to investigate behavioral and cardiometabolic risk factors for the prevalence of hypertriglyceridemia. The magnitude of the association was presented as an adjusted odds ratio (AOR) with a 95% confidence interval (CI). Results The hypertriglyceridemia prevalence among RTA personnel was 43.4% (95% CI: 42.9–43.8%) in 2017. It then continuously decreased to 40.3% (95% CI: 39.9–40.7%) in 2020 and slightly rose to 41.0% (95% CI: 40.6–41.4%) in 2021 (p for trend < 0.001). The prevalence of hypertriglyceridemia was higher for males than females (AOR 2.15; 95% CI: 2.07–2.23); RTA personnel aged 40–44 years compared with those aged 35–39 years (AOR 1.05; 95% CI: 1.02–1.08); and RTA personnel residing in the northeast (AOR; 1.15 95% CI: 1.11–1.18) and the north (AOR 1.05; 95% CI: 1.02–1.08) compared with those residing in Bangkok. The independent behavioral factors associated with hypertriglyceridemia included alcohol consumption, smoking, and sedentary behavior. Moreover, cardiometabolic risk factors, including higher body mass index, high fasting plasma glucose (≥ 100 mg/dL), high blood pressure (≥ 140/90 mmHg), and hypercholesterolemia (≥ 200 mg/dL), were significantly related to hypertriglyceridemia. Conclusion Our data demonstrated that hypertriglyceridemia is a frequent health issue, especially among males, participants aged 40–44 years, and RTA personnel residing in the northeast and the north. The prevalence of hypertriglyceridemia in this population was greatly influenced by alcohol consumption, cigarette smoking, and sedentary behavior. Both behavioral and cardiometabolic risk factors are potential targets for intervention to enhance the primary prevention of sequelae of hypertriglyceridemia, including ASCVD.
Collapse
Affiliation(s)
- Boonsub Sakboonyarat
- Department of Military and Community Medicine, Phramongkutklao College of Medicine, Bangkok, 10400, Thailand
| | - Jaturon Poovieng
- Department of Medicine, Phramongkutkalo College of Medicine, Bangkok, 10400, Thailand
| | - Kanlaya Jongcherdchootrakul
- Department of Military and Community Medicine, Phramongkutklao College of Medicine, Bangkok, 10400, Thailand
| | - Phutsapong Srisawat
- Department of Military and Community Medicine, Phramongkutklao College of Medicine, Bangkok, 10400, Thailand
| | - Panadda Hatthachote
- Department of Physiology, Phramongkutklao College of Medicine, Bangkok, 10400, Thailand
| | - Mathirut Mungthin
- Department of Parasitology, Phramongkutklao College of Medicine, Bangkok, 10400, Thailand
| | - Ram Rangsin
- Department of Military and Community Medicine, Phramongkutklao College of Medicine, Bangkok, 10400, Thailand.
| |
Collapse
|
|
11
|
Folwaczny A, Waldmann E, Altenhofer J, Henze K, Parhofer KG. Postprandial Lipid Metabolism in Normolipidemic Subjects and Patients with Mild to Moderate Hypertriglyceridemia: Effects of Test Meals Containing Saturated Fatty Acids, Mono-Unsaturated Fatty Acids, or Medium-Chain Fatty Acids. Nutrients 2021; 13:nu13051737. [PMID: 34065380 PMCID: PMC8160756 DOI: 10.3390/nu13051737] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/26/2021] [Revised: 05/12/2021] [Accepted: 05/17/2021] [Indexed: 12/12/2022] Open
Abstract
Fasting and postprandial hypertriglyceridemia are causal risk factors for atherosclerosis. The prevalence of hypertriglyceridemia is approximately 25–30% and most hypertriglyceridemic patients suffer from mild to moderate hypertriglyceridemia. Data regarding dietary interventions on postprandial triglyceride metabolism of mildly to moderately hypertriglyceridemic patients is, however, sparse. In a randomized controlled trial, eight mildly hypertriglyceridemic patients and five healthy, normolipidemic controls received three separate standardized fat-meals containing either saturated fatty acids (SFA), mono-unsaturated fatty acids (MUFA), or medium-chain fatty acids (MCFA) in a randomized order. Fasting and postprandial lipid parameters were determined over a 10 h period and the (incremental) area under the curve (AUC/iAUC) for plasma triglycerides and other parameters were determined. MCFA do not lead to a significant elevation of postprandial total plasma triglycerides and other triglyceride parameters, while both SFA (patients: p = 0.003, controls: p = 0.03 compared to MCFA) and MUFA (patients: p = 0.001; controls: p = 0.14 compared to MCFA) do lead to such an increase. Patients experienced a significantly more pronounced increase of plasma triglycerides than controls (SFA: patients iAUC = 1006 mg*h/dL, controls iAUC = 247 mg*h/dL, p = 0.02; MUFA: patients iAUC = 962 mg*h/dL, controls iAUC = 248 mg*h/dL, p = 0.05). Replacing SFA with MCFA may be a treatment option for mildly to moderately hypertriglyceridemic patients as it prevents postprandial hypertriglyceridemia.
Collapse
|