Lipodystrophies have been recognised since at least the 19^th century 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.

中文翻译：

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脂肪代谢障碍：理解“超载”脂肪组织后果的范例

至少自19脂肪营养障碍已被确认^日世纪以来，尽管它们很罕见，但由于与肥胖症非常相似的相关代谢疾病的严重性和有些矛盾的性质，它们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被表征，促进了家族遗传筛查和早期疾病检测，并提供了对脂肪细胞生物学和脂肪细胞功能受损的全身后果的重要见解。最近，引人注目的遗传研究表明，微妙的部分脂肪代谢障碍可能是流行的胰岛素抵抗 T2DM 的主要因素，证明了对这些疾病的长期兴趣是合理的。这一进展也支持了新的治疗方法，至少对一些患者来说，这些方法可能具有相当大的治疗益处。