J Clin Invest. 2019 Aug 5;129(10):4009-4021. doi: 10.1172/JCI129190.
Lipodystrophies are the result of a range of inherited and acquired causes, but all are characterized by perturbations in white adipose tissue function and, in many instances, its mass or distribution. Though patients are often nonobese, they typically manifest a severe form of the metabolic syndrome, highlighting the importance of white fat in the "safe" storage of surplus energy. Understanding the molecular pathophysiology of congenital lipodystrophies has yielded useful insights into the biology of adipocytes and informed therapeutic strategies. More recently, genome-wide association studies focused on insulin resistance have linked common variants to genes implicated in adipose biology and suggested that subtle forms of lipodystrophy contribute to cardiometabolic disease risk at a population level. These observations underpin the use of aligned treatment strategies in insulin-resistant obese and lipodystrophic patients, the major goal being to alleviate the energetic burden on adipose tissue.
脂肪营养不良是一系列遗传和获得性原因的结果，但所有这些原因都表现为白色脂肪组织功能的紊乱，在许多情况下还表现为其质量或分布的紊乱。尽管患者通常不肥胖，但他们通常表现出严重的代谢综合征形式，这突出了白色脂肪在安全储存多余能量方面的重要性。对先天性脂肪营养不良的分子病理生理学的理解为脂肪细胞的生物学提供了有用的见解，并为治疗策略提供了信息。最近，针对胰岛素抵抗的全基因组关联研究将常见变异与涉及脂肪生物学的基因联系起来，并表明轻微形式的脂肪营养不良会导致人群水平的心血管代谢疾病风险。这些观察结果为在胰岛素抵抗肥胖和脂肪营养不良患者中使用一致的治疗策略提供了依据，主要目标是减轻脂肪组织的能量负担。
