Iwanishi Masanori, Ebihara Ken, Kusakabe Toru, Harada Shinji, Ito-Kobayashi Jun, Tsuji Atsushi, Hosoda Kiminori, Nakao Kazuwa
Diabetes and Endocrine Division, Kusatsu General Hospital, Japan.
Intern Med. 2012;51(18):2573-9. doi: 10.2169/internalmedicine.51.7461. Epub 2012 Sep 15.
We herein report a case of premature atherosclerosis in a patient with familial partial lipodystrophy (FPL), diabetes mellitus, hypertension and hypertriglyceridemia. Sequencing of the candidate genes LMNA, PPARG and CAV1 associated with FPL revealed no genetic abnormalities, which indicated the activity of a novel gene in this patient. The patient's son showed milder fat loss and similar fat distribution compared to the proband; however, the son showed no signs of any atherosclerotic disease. Although a cluster of atherogenic risk factors is likely to be the primary causes of atherosclerosis in our patient, other factors, including an unknown gene associated with FPL, the severity of fat loss and gender, might affect the development of atherosclerosis.
我们在此报告一例患有家族性部分脂肪营养不良（FPL）、糖尿病、高血压和高甘油三酯血症的患者发生过早动脉粥样硬化的病例。对与FPL相关的候选基因LMNA、PPARG和CAV1进行测序，未发现基因异常，这表明该患者存在一个新基因的活性。与先证者相比，患者的儿子脂肪减少较轻且脂肪分布相似；然而，儿子没有任何动脉粥样硬化疾病的迹象。虽然一系列致动脉粥样硬化危险因素可能是我们患者动脉粥样硬化的主要原因，但其他因素，包括与FPL相关的未知基因、脂肪减少的严重程度和性别，可能会影响动脉粥样硬化的发展。
