Prasad P V S, Chidambaram N
Department of Dermatology, Rajah Muthiah Medical College and Hospital, Annamalai University, No. 88 Auta Nagar, Sivapuri-post, Annamalainagar-608 002, India.
Int J Dermatol. 2004 Mar;43(3):173-5. doi: 10.1111/j.1365-4632.2004.01457.x.
Familial hypercholesterolemia (FH) is the most commonly recognized disorder of lipoprotein metabolism in childhood. We report a case of FH in a 5-year-old boy with onset of jaundice since birth, and multiple planar, tuberous, palmar and intertrigenous xanthomas covering the trunk and limbs. His total cholesterol was 590 mg/dl and triglycerides were 171 mg/dl. Echocardiography revealed mild aortic stenosis as a result of premature atherosclerosis. He was diagnosed with homozygous FH, and is reported here because of the interesting clinical features.
家族性高胆固醇血症（FH）是儿童期最常见的脂蛋白代谢紊乱疾病。我们报告一例5岁男孩的FH病例，该男孩自出生起就出现黄疸，躯干和四肢有多处扁平、结节状、掌部和间擦部位的黄色瘤。他的总胆固醇为590mg/dl，甘油三酯为171mg/dl。超声心动图显示由于过早发生动脉粥样硬化导致轻度主动脉狭窄。他被诊断为纯合子FH，因其有趣的临床特征在此报告。
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