Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.

Autor:	Guidorizzi NR; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Division of Endocrinology and Metabology, Department of Internal Medicine, Clinical Hospital of Ribeirão Preto Medicine School, University of São Paulo, Ribeirão Preto, Brazil., Valerio CM; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Department of Metabolism, Institute of Diabetes and Endocrinology of Rio de Janeiro (IEDE), Rio de Janeiro, Brazil., Viola LF; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Rondonópolis Diabetes and Endocrinology Center (CEDERO), Rondonópolis, Brazil., Veras VR; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Clinical Research Unit, Walter Cantídio University Hospital, Federal University of Ceará/Empresa Brasileira de Serviços Hospitalares - Brazilian Hospital Services Company (EBSERH), Fortaleza, Brazil., Fernandes VO; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Clinical Research Unit, Walter Cantídio University Hospital, Federal University of Ceará/Empresa Brasileira de Serviços Hospitalares - Brazilian Hospital Services Company (EBSERH), Fortaleza, Brazil., Lima GEDCP; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Clinical Research Unit, Walter Cantídio University Hospital, Federal University of Ceará/Empresa Brasileira de Serviços Hospitalares - Brazilian Hospital Services Company (EBSERH), Fortaleza, Brazil., Flor AC; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Clinical Research Unit, Walter Cantídio University Hospital, Federal University of Ceará/Empresa Brasileira de Serviços Hospitalares - Brazilian Hospital Services Company (EBSERH), Fortaleza, Brazil., Araújo JS; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Clinical Research Unit, Walter Cantídio University Hospital, Federal University of Ceará/Empresa Brasileira de Serviços Hospitalares - Brazilian Hospital Services Company (EBSERH), Fortaleza, Brazil., Gonçalves Muniz RB; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Department of Metabolism, Institute of Diabetes and Endocrinology of Rio de Janeiro (IEDE), Rio de Janeiro, Brazil., Moreira RO; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Department of Metabolism, Institute of Diabetes and Endocrinology of Rio de Janeiro (IEDE), Rio de Janeiro, Brazil., De Paula FJA; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Division of Endocrinology and Metabology, Department of Internal Medicine, Clinical Hospital of Ribeirão Preto Medicine School, University of São Paulo, Ribeirão Preto, Brazil., Zajdenverg L; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Internal Medicine Department - Nutrology and Diabetes Session, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil., Dantas JR; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Internal Medicine Department - Nutrology and Diabetes Session, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil., Godoy-Matos AF; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Department of Metabolism, Institute of Diabetes and Endocrinology of Rio de Janeiro (IEDE), Rio de Janeiro, Brazil., Montenegro Júnior RM; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Clinical Research Unit, Walter Cantídio University Hospital, Federal University of Ceará/Empresa Brasileira de Serviços Hospitalares - Brazilian Hospital Services Company (EBSERH), Fortaleza, Brazil., Foss-Freitas MC; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Fortaleza, Brazil.; Division of Metabolism, Endocrinology and Diabetes (MEND), Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, MI, United States.
Jazyk:	angličtina
Zdroj:	Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jun 03; Vol. 15, pp. 1359211. Date of Electronic Publication: 2024 Jun 03 (Print Publication: 2024).
DOI:	10.3389/fendo.2024.1359211
Abstrakt:	Background: There is a lack of information on the clinical and molecular presentation of familial partial lipodystrophy (FPLD), a rare genetic disorder characterized by partial subcutaneous fat loss. Objective: This study aimed to provide a comprehensive assessment of the clinical, metabolic, and genetic features of FPLD in the Brazilian population. Methods: In a multicenter cross-sectional investigation we evaluated patients with FPLD across five Brazilian reference centers for lipodystrophies. Diagnosis of FPLD was made by clinical evaluation and genetic confirmation. Data on genetic, clinical, and metabolic characteristics were captured. Statistical analysis involved the utilization of the Kruskal-Wallis test to identify differences. Results: The study included 106 patients with genetic confirmation of FPLD. The mean age was 44 ± 15 years, and they were predominantly female (78.3%). LMNA pathogenic variants were identified in 85.8% of patients, PPARG in 10.4%, PLIN1 in 2.8%, and MFN2 in 0.9%. Diabetes mellitus (DM) was highly prevalent (57.5%), affecting 54 females (50.9%). Median triglycerides levels were 199 mg/dL (54-2724 mg/dL), severe hypertriglyceridemia (≥ 500 mg/dL) was found in 34.9% and pancreatitis in 8.5%. Metabolic-associated fatty liver disease (MAFLD) was observed in 56.6%, and cardiovascular disease in 10.4%. The overall mortality rate was 3.8%, due to cardiovascular events. Conclusion: This study presents an extensive cohort of Brazilian patients with FPLD, predominantly DM with several multisystem complications. A comprehensive characterization of lipodystrophy syndromes is crucial for effective patient management and care. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer AS declared a shared affiliation with the authors NG, FP at the time of the review. (Copyright © 2024 Guidorizzi, Valerio, Viola, Veras, Fernandes, Lima, Flor, Araújo, Gonçalves Muniz, Moreira, De Paula, Zajdenverg, Dantas, Godoy-Matos, Montenegro Júnior and Foss-Freitas.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu