Berardinelli–Seip Syndrome

February 2026 in “ Endokrynologia Polska ”

Savelia Gavrailova Yordanova, Zdravka Todorova, Antoaneta Gateva, Vera Karamfilova, Margarita Archinkova, Zdravko Kamenov, Yavor Assyov

congenital generalized lipodystrophy lipoatrophy metreleptin insulin sensitizers lipid-lowering therapies

TLDR Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

Berardinelli–Seip syndrome, or congenital generalized lipodystrophy (CGL), is a rare genetic disorder with a prevalence of 1 in 10,000,000 births, characterized by lipoatrophy and severe metabolic complications. Mutations in genes such as AGPAT2, BSCL2, CAV1, and PTRF have been identified, offering insights into adipose tissue biology. Early diagnosis and genetic confirmation are essential for timely interventions, including lifestyle changes, insulin sensitizers, and lipid-lowering therapies like metreleptin. The document presents two cases illustrating the clinical variability and therapeutic strategies in CGL, emphasizing the need for comprehensive care and emerging treatments.

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