Lipodystrophy: A paradigm for understanding the consequences of "overloading" adipose tissue

Abstract

Lipodystrophies have been recognised since at least the 19thcentury and despite their rarity tended to attract considerable medical attention due to the severity and somewhat paradoxical nature of the associated metabolic disease which so closely mimics that of obesity. Within the last 20 years most of the monogenic subtypes have been characterized, facilitating family genetic screening and earlier disease detection, as well as providing important insights into adipocyte biology and the systemic consequences of impaired adipocyte function. Even more recently, compelling genetic studies have suggested that subtle partial lipodystrophy is likely to be a major factor in prevalent insulin resistant T2DM, justifying the longstanding interest in these disorders. This progress has also underpinned novel approaches to treatment which, in at least some patients, can be of considerable therapeutic benefit.