Wabitsch M, V Schnurbein J
Zentrum für Seltene Endokrine Erkrankungen (ZSEE), Sektion Pädiatrische Endokrinologie und Diabetologie, Universitätsklinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm, Eythstr. 24, 89075, Ulm, Deutschland.
Internist (Berl). 2020 Oct;61(10):1063-1075. doi: 10.1007/s00108-020-00864-3.
Lipodystrophy (LD) syndromes are a group of rare and heterogeneous diseases characterized by a congenital deficiency or acquired loss of adipose tissue. Due to the resulting disorder of metabolism, sometimes severe sequelae can develop, such as hypertriglyceridemia, marked insulin resistance and early manifestation of type 2 diabetes, recurrent pancreatitis, fatty liver disease and liver fibrosis. Lipodystrophies are clinically recognizable due to the complete lack of subcutaneous adipose tissue or a conspicuous pattern of the distribution of body fat. Acanthosis nigricans in slimly built persons, a high fasting triglyceride level and elevated concentrations of liver enzymes as well as a positive history of pancreatitis can be indications of LD.
脂肪营养不良（LD）综合征是一组罕见的异质性疾病，其特征是先天性脂肪组织缺乏或后天性脂肪组织丢失。由于由此导致的代谢紊乱，有时会出现严重的后遗症，如高甘油三酯血症、明显的胰岛素抵抗和2型糖尿病的早期表现、复发性胰腺炎、脂肪肝病和肝纤维化。由于完全缺乏皮下脂肪组织或明显的体脂分布模式，脂肪营养不良在临床上是可识别的。体型消瘦者出现黑棘皮病、空腹甘油三酯水平升高、肝酶浓度升高以及胰腺炎阳性病史可能是脂肪营养不良的迹象。
