Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy
Abstract
Background: Partial lipodystrophies are a rare and heterogeneous group of diseases characterized by variable loss of adipose tissue. 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.
Methods: 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.
Results: Two clinical criteria were proposed for the suspicion of FPLD: one mandatory criterion, characterized by lipoatrophy in the lower…
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