Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.
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 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.
Conclusions: 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.