Schmidt H H, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge U J, Pröpsting M, Büttner C, Manns M P, Lochs H, Brabant G
Charité Campus Mitte, Medizinische Klinik Gastroenterologie, Hepatologie und Endokrinologie, Berlin, Germany.
J Clin Endocrinol Metab. 2001 May;86(5):2289-95. doi: 10.1210/jcem.86.5.7500.
Lipatrophic diabetes, also referred to as familial partial lipodystrophy, is a rare disease that is metabolically characterized by hypertriglyceridemia and insulin resistance. Affected patients typically present with regional loss of body fat and muscular hypertrophic appearance. Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome. Mutations within the LMNA gene on chromosome 1q21.2 were recently reported to result in the phenotype of familial partial lipodystrophy. The genetic trait is autosomal dominant. We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Trp) missense mutation within LMNA. Here we present the lipoprotein characteristics in this family in detail. Clinically, the loss of sc fat and muscular hypertrophy especially of the lower extremities started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. The characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. In conclusion, dyslipemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation within LMNA.
脂肪萎缩性糖尿病，也被称为家族性部分脂肪营养不良，是一种罕见疾病，其代谢特征为高甘油三酯血症和胰岛素抵抗。受影响的患者通常表现为身体局部脂肪减少和肌肉肥厚外观。可变症状可能包括由于严重高甘油三酯血症导致的胰腺炎和/或疹性黄瘤、黑棘皮症、多囊卵巢和腕管综合征。最近报道，位于1q21.2染色体上的LMNA基因内的突变会导致家族性部分脂肪营养不良的表型。该遗传特征为常染色体显性遗传。我们鉴定出一个携带LMNA基因内R482W（精氨酸(482)色氨酸）错义突变的部分脂肪营养不良家族。在此，我们详细介绍该家族的脂蛋白特征。临床上，皮下脂肪减少和肌肉肥厚，尤其是下肢的情况早在儿童期就开始出现。黑棘皮症和严重高甘油三酯血症在生命后期出现，随后是糖尿病。脂蛋白亚组分的特征显示，受影响的儿童存在高脂血症。高脂血症的存在和严重程度似乎受年龄、载脂蛋白E基因型以及糖尿病共存情况的影响。总之，血脂异常是所呈现的携带LMNA基因内R482W突变的脂肪萎缩性家族中的一个早期且突出的特征。
