Acquired and Inherited Lipodystrophies

Abstract

Lipodystrophies are clinically heterogeneous acquired or inherited disorders characterised by the selective loss of adipose tissue. Affected patients are predisposed to insulin resistance and its attendant complications, including diabetes mellitus, dyslipidemia, hepatic steatosis, and acanthosis nigricans. Features of polycystic ovary syndrome - hirsutism, oligoamenorrhea and polycystic ovaries - may develop in affected women. The mechanisms involved in the pathogenesis of various types of lipodystrophy are listed in Table 1. More than a century after the clinical phenotype was first described, we are beginning to understand the molecular and cellular mechanisms underlying lipodystrophies. The genetic basis of many inherited lipodystrophy syndromes has been elucidated through the systematic characterisation of phenotypes based on distinct clinical features and unique patterns of adipose-tissue distribution, together with techniques derived from research in molecular biology and sequencing of the human genome. This review focuses on the clinical features, underlying pathogenic mechanisms, and management of various types of lipodystrophy.