Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
Physiol Rev. 2021 Jul 1;101(3):907-993. doi: 10.1152/physrev.00032.2020. Epub 2020 Dec 24.
Lipodystrophies have been recognized since at least the nineteenth century and, despite their rarity, tended to attract considerable medical attention because of the severity and somewhat paradoxical nature of the associated metabolic disease that so closely mimics that of obesity. Within the last 20 yr 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 type 2 diabetes mellitus (T2DM), justifying the longstanding interest in these disorders. This progress has also underpinned novel approaches to treatment that, in at least some patients, can be of considerable therapeutic benefit.
脂代谢障碍性疾病自 19 世纪以来就已被认识到，尽管它们较为罕见，但由于其相关代谢疾病的严重程度和有些矛盾的性质与肥胖症非常相似，因此往往会引起相当多的医学关注。在过去的 20 年中，大多数单基因亚型已经得到了描述，这有助于进行家族遗传筛查和早期疾病检测，并为脂肪细胞生物学和脂肪细胞功能受损的系统后果提供了重要的见解。最近，有说服力的遗传研究表明，轻微的部分脂代谢障碍性疾病可能是普遍存在的胰岛素抵抗型 2 型糖尿病（T2DM）的一个主要因素，这也解释了人们对这些疾病长期以来的关注。这一进展还为治疗提供了新的方法，至少在某些患者中，这些方法具有相当大的治疗益处。
