Chan Darwin, McIntyre Adam D, Hegele Robert A, Don-Wauchope Andrew C
School of Medicine, McMaster University, Hamilton, Ontario, Canada.
Vascular Biology Group, Robarts Research Institute and Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
J Clin Lipidol. 2016 Nov-Dec;10(6):1488-1491. doi: 10.1016/j.jacl.2016.08.012. Epub 2016 Sep 1.
We report the first described case of a heterozygous p.R545H (c.1634 G > A) missense mutation in the LMNA gene with clinical features compatible with Dunnigan-type 2 familial partial lipodystrophy (FPLD2). The case presented as metabolic syndrome to a specialist clinical service and highlights the overlap between FPLD2 and the metabolic syndrome. The associations with type 2 diabetes mellitus, fatty liver disease, polycystic ovarian syndrome, and hypertriglyceridemia are highlighted. The importance of evaluating patients for these associated conditions is discussed, and the potential mechanisms of disease are briefly outlined. The mutation has been previously reported in a heart failure database without a clinical description. The links between heart failure and the clinical condition are briefly considered.
我们报告了首例被描述的携带LMNA基因杂合性p.R545H（c.1634 G>A）错义突变的病例，其临床特征与邓尼根型2型家族性部分脂肪营养不良（FPLD2）相符。该病例以代谢综合征的形式出现在专科临床服务中，突出了FPLD2与代谢综合征之间的重叠。文中强调了其与2型糖尿病、脂肪性肝病、多囊卵巢综合征和高甘油三酯血症的关联。讨论了评估患者这些相关病症的重要性，并简要概述了疾病的潜在机制。该突变先前已在一个心力衰竭数据库中被报道，但无临床描述。文中简要探讨了心力衰竭与该临床病症之间的联系。
