Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390-8537, USA.
J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25. doi: 10.1210/jc.2011-1159. Epub 2011 Aug 24.
Lipodystrophies are heterogeneous, genetic or acquired disorders characterized by selective loss of body fat and predisposition to insulin resistance. The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia, and hepatic steatosis.
Both original and review articles were found via PubMed search reporting on clinical features and management of various types of lipodystrophies and were integrated with the author's knowledge of the field.
The autosomal recessive congenital generalized lipodystrophy and autosomal dominant familial partial lipodystrophy (FPL) are the two most common types of genetic lipodystrophies. Mutations in AGPAT2, BSCL2, CAV1, and PTRF have been reported in congenital generalized lipodystrophy and in LMNA, PPARG, AKT2, and PLIN1 in FPL. CIDEC is the disease gene for autosomal recessive, FPL and LMNA and ZMPSTE24 for autosomal recessive, mandibuloacral dysplasia-associated lipodystrophy. Recently, an autosomal recessive autoinflammatory lipodystrophy syndrome was reported to be due to PSMB8 mutation. Molecular genetic bases of many rare forms of genetic lipodystrophies remain to be elucidated. The most prevalent subtype of acquired lipodystrophy currently occurs with prolonged duration of protease inhibitor-containing, highly-active antiretroviral therapy in HIV-infected patients. The acquired generalized and partial lipodystrophies are mainly autoimmune in origin and display complement abnormalities. Localized lipodystrophies occur due to drug or vaccine injections, pressure, panniculitis, and other unknown reasons. The current management includes cosmetic surgery and early identification and treatment of metabolic and other complications with diet, exercise, hypoglycemic drugs, and lipid-lowering agents.
脂肪营养不良是一种异质性的遗传或获得性疾病，其特征为身体脂肪选择性丧失和胰岛素抵抗易感性。脂肪丢失的程度决定了相关代谢并发症的严重程度，如糖尿病、高甘油三酯血症和肝脂肪变性。
通过 PubMed 搜索报告各种类型的脂肪营养不良的临床特征和管理的原始和综述文章都被找到，并与作者在该领域的知识相结合。
常染色体隐性先天性全身性脂肪营养不良和常染色体显性家族性部分脂肪营养不良（FPL）是两种最常见的遗传性脂肪营养不良类型。AGPAT2、BSCL2、CAV1 和 PTRF 的突变已在先天性全身性脂肪营养不良中报道，而 LMNA、PPARG、AKT2 和 PLIN1 在 FPL 中报道。CIDEC 是常染色体隐性、FPL 和 LMNA 的疾病基因，ZMPSTE24 是常染色体隐性、下颌骨面骨发育不良相关脂肪营养不良的疾病基因。最近，一种常染色体隐性自身炎症性脂肪营养不良综合征被报道是由于 PSMB8 突变引起的。许多罕见形式的遗传性脂肪营养不良的分子遗传基础仍有待阐明。目前最常见的获得性脂肪营养不良亚型是由于 HIV 感染患者接受长期蛋白酶抑制剂含高效抗逆转录病毒治疗引起的。获得性全身性和部分脂肪营养不良主要是自身免疫性的，并显示补体异常。局部脂肪营养不良是由于药物或疫苗注射、压力、脂膜炎和其他未知原因引起的。目前的治疗方法包括美容手术和早期识别和治疗代谢和其他并发症，采用饮食、运动、降糖药物和降脂药物。
