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Around the world, the high heterogeneity in phenotypic expression, limited awareness, and absence of standardized diagnostic criteria for familial partial lipodystrophies (FPLD) may contribute to the underdiagnosis of genetic forms. The estimated high prevalence of FPLD in Brazil, combined with resource limitations in the healthcare system and a lack of specialized medical centers, presents significant challenges in the diagnosis and treatment of lipodystrophy-related conditions. This expert consensus aimed to establish clinical criteria for FPLD suspicion and diagnosis, propose a flowchart for clinical and complementary evaluation, and provide a framework for managing FPLD-related disorders and complications.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>A consensus was reached following discussions with 15 experts from Brazilian lipodystrophy referral centers specializing in the diagnosis and management of partial lipodystrophies. Using a combination of face-to-face meetings and online and offline activities, the panel addressed five key aspects of FPLD management: clinical suspicion and diagnosis of the condition, classification of the most common subtypes, multisystem manifestations, screening for complications, and therapeutic approaches.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Two clinical criteria were proposed for the suspicion of FPLD: one mandatory criterion, characterized by lipoatrophy in the lower limbs, and at least one of the following conditions associated with FPLD: hypertriglyceridemia and\/or low high-density lipoprotein cholesterol, diabetes mellitus, impaired fasting glucose or glucose intolerance, metabolic-associated steatosis liver disease, early coronary atherosclerotic disease, acanthosis nigricans, and polycystic ovary syndrome. To confirm the diagnosis, different combinations of criteria were suggested: presence of the mandatory criterion along with either two major criteria, one major and two minor criteria, or a positive genetic test with a mandatory criterion.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This expert consensus provides a feasible guide based on signs of lipoatrophy and metabolic abnormalities observed in Brazilian centers of lipodystrophy to enhance clinical suspicion and enable early diagnosis of FPLD. Through adequate screening for FPLD-related complications, a therapeutic approach has been proposed that includes lifestyle modifications, early interventions for comorbidities, and targeted pharmacological treatment.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13098-025-01733-5","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T01:23:38Z","timestamp":1748827418000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy"],"prefix":"10.1186","volume":"17","author":[{"given":"Cynthia Melissa","family":"Valerio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz F.","family":"Viola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nat\u00e1lia Rossin","family":"Guidorizzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josivan Gomes","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lio F.","family":"Godoy-Matos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Hohl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio R.","family":"Trujilho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana R.","family":"Dantas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julliane Tamara Ara\u00fajo","family":"de Melo Campos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenita","family":"Zajdenverg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel Beatriz Gon\u00e7alves","family":"Muniz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo Oliveira","family":"Moreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virg\u00ednia Oliveira","family":"Fernandes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Foss-Freitas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Renan","family":"Montenegro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,2]]},"reference":[{"issue":"3","key":"1733_CR1","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/j.ando.2024.05.015","volume":"85","author":"H Mosbah","year":"2024","unstructured":"Mosbah H, Vatier C, Vigouroux C. 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LFV reports receiving payment or honoraria from Novo Nordisk and AstraZeneca and has received travel and meeting support from Novo Nordisk, Eli Lilly and Company, PTC Therapeutics, and Chiesi. NGR has received speaker and consultancy fees from Chiesi Pharmaceuticals. And PTC Therapeutics, speaker honorarium from BI-Lilly and Novo Nordisk and was sponsored from Novo Nordisk, Lilly, PTC Therapeutics, Takeda and Merck for participation in conferences. JL has received speaker and consultancy fees from NovoNordisk, Abbott and Chiesi. AFG-M has received speaker and consultancy fees from Astra-Zeneca, Lilly, NovoNordisk, PTC Therapeutics, and Takeda, and was sponsored from Astra-Zeneca, Novo Nordisk, Lilly and Takeda for participation in conferences. AH reports receiving consulting fees from Besins, Brace Pharma, Daiichi Sankyo, Lilly, Merck and Novo Nordisk. FRT declare that received fees from the following companies for lectures and consultancy: Ach\u00e9, AstraZeneca, BracePharma, Boehringer Ingelheim and Eli Lilly do Brasil, EMS, Eurofarma, Johnson & Johnson, Myrallis, Merck, Novo Nordisk, Servier, Scitech Medical, Takeda. JTAMC has received speaker fees from Chiesi Pharmaceuticals. JRD has received speaker fees from Chiesi, Merck, Astra-Zeneca and NovoNordisk, consultancy fees from Novartis and was sponsored from Astra-Zeneca and Novo Nordisk for participation in conferences. LZ has received speaker fees from NovoNordisk and Chiesi Pharmaceuticals and sponsored from Novo Nordisk, for participation in conferences. RBGM has no conflits of interest for this manuscript. ROM has received speaker fees from Astra-Zeneca, Merck, Bayer, Libbs, EMC, Brace Pharma, Servier, PTC, Lilly and NovoNordisk, consultancy fees from NovoNordisk, AstraZeneca, Viatris, Bayer, Merck and was sponsored from Astra-Zeneca, Bayer and Novo Nordisk for participation in conferences. VOF has received speaker fees or participated in clinical studies as SI of Chiesi, PTC and Boehringer Ingelheim. MCFF has no conflits of interest for this manuscript. RMMJ has received speaker fees, consultant fees or participate in clinical studies as PI of Chiesi, PTC, Hypera, Astrazeneca, Sanofi, Servier, Eli Lilly, and Novo Nordisk.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"186"}}