Metabolism Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.
J Clin Endocrinol Metab. 2022 May 17;107(6):1714-1726. doi: 10.1210/clinem/dgac079.
Lipodystrophy constitutes a spectrum of diseases characterized by a generalized or partial absence of adipose tissue. Underscoring the role of healthy fat in maintenance of metabolic homeostasis, fat deficiency in lipodystrophy typically leads to profound metabolic disturbances including insulin resistance, hypertriglyceridemia, and ectopic fat accumulation. While rare, recent genetic studies indicate that lipodystrophy is more prevalent than has been previously thought, suggesting considerable underdiagnosis in clinical practice. In this article, we provide an overview of the etiology and management of generalized and partial lipodystrophy disorders. We bring together the latest scientific evidence and clinical guidelines and expose key gaps in knowledge. Through improved recognition of the lipodystrophy disorders, patients (and their affected family members) can be appropriately screened for cardiometabolic, noncardiometabolic, and syndromic abnormalities and undergo treatment with targeted interventions. Notably, insights gained through the study of this rare and extreme phenotype can inform our knowledge of more common disorders of adipose tissue overload, including generalized obesity.
脂肪营养不良是一类以脂肪组织广泛或局部缺失为特征的疾病谱。健康脂肪在维持代谢稳态中起着重要作用，脂肪营养不良中的脂肪缺乏通常会导致严重的代谢紊乱，包括胰岛素抵抗、高三酰甘油血症和异位脂肪堆积。尽管罕见，但最近的遗传研究表明，脂肪营养不良比以前认为的更为普遍，这表明在临床实践中存在相当大的漏诊。本文对全身性和局部性脂肪营养不良疾病的病因和治疗进行了概述。我们汇集了最新的科学证据和临床指南，并揭示了知识上的关键空白。通过更好地认识脂肪营养不良疾病，可对患者（及其受影响的家庭成员）进行心血管代谢、非心血管代谢和综合征异常的适当筛查，并进行有针对性的干预治疗。值得注意的是，通过对这种罕见和极端表型的研究获得的见解，可以为我们对更常见的脂肪组织过载疾病（包括全身性肥胖）的认识提供信息。
