Abstract
BACKGROUND: Lipodystrophy syndromes are a group of rare, clinically complex disorders characterized by a partial or generalized lack of adipose tissue. Affected individuals develop severe metabolic comorbidities and frequently display absolute or relative reductions in leptin levels. Congenital generalized lipodystrophy (CGL) was first described in two cases from Brazil in 1954, with subsequent studies highlighting the burden of lipodystrophy syndromes in patients from Brazil and elsewhere. However, despite this earlier research, awareness of lipodystrophy syndromes among the general Brazilian medical community remains limited. In November 2022, a panel of Brazilian specialists with experience in lipodystrophy syndromes, met at a full-day face-to-face meeting to discuss the importance of these rare metabolic diseases in Brazil. This manuscript is an output from this expert panel discussion. METHODS: A structured agenda was prepared and involved a series of presentations followed by expert discussion sessions. Discussion points and insights collected during the meeting were developed into a report that was reviewed and approved by all authors. This report served as a basis for the current manuscript. Where applicable, the content presented in this manuscript is supported by published data in lipodystrophy syndromes from Brazil and other international studies. RESULTS: The key themes discussed at the meeting and presented here include: (1) the epidemiology, prevalence and clinical presentation of lipodystrophy syndromes in Brazil, (2) the diagnostic journey of Brazilian patients with lipodystrophy syndromes including diagnostic challenges, and (3) the clinical approach to lipodystrophy syndromes in Brazil. Potential knowledge gaps in lipodystrophy syndromes among the general Brazilian medical community are reviewed. Country-level initiatives that can increase disease awareness and help non-specialist healthcare professionals in recognizing patients with lipodystrophy syndromes are also explored. CONCLUSION: This manuscript provides an overview of the current knowledge base of lipodystrophy syndromes in Brazil and suggests areas where this may be improved. The information presented here could help the development of a national guideline for lipodystrophy syndromes that supports clinical care pathways for Brazilian patients.