A serendipitous discovery: an adult case of congenital generalized lipodystrophy

Abstract

Congenital generalized lipodystrophies are a heterogeneous group of rare disorders characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism, and mental retardation. We report a 41-year-old female that presented as a rare adult case of congenital generalized lipodystrophy type 1. She was referred to us as a case of hypertriglyceridemia with features of generalized lipodystrophy and manifestations of associated multiple metabolic disorders. Triglyceride level was tremendously high with reduced high-density lipoproteins. The patient was found to have a pathogenic novel mutation in the AGPAT2 gene, confirming the diagnosis of congenital generalized lipodystrophy type 1.