Premature Atherosclerosis in a Japanese Diabetic Patient with Atypical Familial Partial Lipodystrophy and Hypertriglyceridemia
Premature Atherosclerosis in a Japanese Diabetic Patient with Atypical Familial Partial Lipodystrophy and Hypertriglyceridemia
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DOI：
10.2169/internalmedicine.51.7461
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发表时间：
2012-01-01
影响因子：
1.2
通讯作者：
Nakao, Kazuwa
中科院分区：
文献类型：
--
作者：
Iwanishi, Masanori;Ebihara, Ken;Nakao, Kazuwa
我们在此报告一个家族性部分脂肪营养不良、糖尿病、高血压和高血脂症患者过早发生动脉粥样硬化的病例。与FPL相关的候选基因LMNA、PPARG和CAV 1的测序显示没有遗传异常，这表明该患者中存在新基因的活性。与先证者相比，患者的儿子表现出较轻的脂肪减少和相似的脂肪分布;然而，儿子没有表现出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的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，脂肪损失的严重程度和性别，可能会影响动脉粥样硬化的发展。
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.