Division of Pediatric Neurology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
Division of Endocrinology and Metabolism, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Presse Med. 2021 Nov;50(3):104085. doi: 10.1016/j.lpm.2021.104085. Epub 2021 Oct 30.
Lipodystrophy syndromes are rare complex multisystem disorders caused by generalized or partial lack of adipose tissue. Adipose tissue dysfunction in lipodystrophy is associated with leptin deficiency. Lipodystrophy leads to severe metabolic problems. These abnormalities include, but are not limited to, insulin-resistant diabetes, severe hypertriglyceridemia, and lipid accumulation in ectopic organs such as the liver, and are associated with end-organ complications. Metabolic abnormalities can be present at the time of diagnosis or may develop over time as the disease progresses. In addition to metabolic abnormalities, subtype-specific presentations due to underlying molecular etiology in genetic forms and autoimmunity in acquired forms contribute to severe morbidity in lipodystrophy.
脂肪营养不良综合征是一种罕见的复杂多系统疾病，由全身性或局部性脂肪组织缺失引起。脂肪营养不良中的脂肪组织功能障碍与瘦素缺乏有关。脂肪营养不良会导致严重的代谢问题。这些异常包括但不限于胰岛素抵抗性糖尿病、严重的高三酰甘油血症以及肝等异位器官的脂质堆积，并与终末器官并发症相关。代谢异常可在诊断时出现，也可随疾病进展而随时间发展。除代谢异常外，由于遗传形式的潜在分子病因和获得性形式的自身免疫，亚类特异性表现也导致脂肪营养不良的严重发病率。
