{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T12:13:44Z","timestamp":1781180024785,"version":"3.54.1"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T00:00:00Z","timestamp":1717372800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aimed to provide a comprehensive assessment of the clinical, metabolic, and genetic features of FPLD in the Brazilian population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The study included 106 patients with genetic confirmation of FPLD. The mean age was 44 \u00b1 15 years, and they were predominantly female (78.3%). <jats:italic>LMNA<\/jats:italic> pathogenic variants were identified in 85.8% of patients, <jats:italic>PPARG<\/jats:italic> in 10.4%, <jats:italic>PLIN1<\/jats:italic> in 2.8%, and <jats:italic>MFN2<\/jats:italic> in 0.9%. Diabetes <jats:italic>mellitus<\/jats:italic> (DM) was highly prevalent (57.5%), affecting 54 females (50.9%). Median triglycerides levels were 199 mg\/dL (54\u20132724 mg\/dL), severe hypertriglyceridemia (\u2265 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2024.1359211","type":"journal-article","created":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T04:34:44Z","timestamp":1717389284000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":13,"title":["Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study"],"prefix":"10.3389","volume":"15","author":[{"given":"Nat\u00e1lia Rossin","family":"Guidorizzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia M.","family":"Valerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz F.","family":"Viola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Rezende","family":"Veras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virg\u00ednia Oliveira","family":"Fernandes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grayce Ellen da Cruz Paiva","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda Caboclo","family":"Flor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica Silveira","family":"Ara\u00fajo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel Beatriz","family":"Gon\u00e7alves Muniz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo Oliveira","family":"Moreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Jos\u00e9 Albuquerque","family":"De Paula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenita","family":"Zajdenverg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana R.","family":"Dantas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lio F.","family":"Godoy-Matos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renan Magalh\u00e3es","family":"Montenegro J\u00fanior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Foss-Freitas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,6,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1080\/17446651.2020.1735360","article-title":"Diagnostic strategies and clinical management of lipodystrophy","volume":"15","author":"Foss-Freitas","year":"2020","journal-title":"Expert Rev Endocrinol Metab"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016\u20132466","article-title":"The diagnosis and management of lipodystrophy syndromes: A multi-society practice guideline","volume":"101","author":"Brown","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1210\/jendso\/bvac155","article-title":"Phenotypic differences among familial partial lipodystrophy due to LMNA or PPARG variants","volume":"6","author":"Vasandani","year":"2022","journal-title":"J Endocr Soc"},{"key":"B4","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1186\/s13023\u2013022-02308\u20137","article-title":"Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; 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