Department of Ophthalmology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Indian J Ophthalmol. 2013 Dec;61(12):770-1. doi: 10.4103/0301-4738.118456.
We report the case of a 12-year-old male who developed corneal arcus and multiple skin lesions with a 10-year history of xanthomas. The lesions appeared over his fingers, hands, elbows, knees, buttocks and feet. Laboratory studies showed a total serum cholesterol level of 752.1 mg/dL; a triglyceride level of 96.6 mg/dL; a low-density lipoprotein cholesterol level of 661.3 mg/dL. Findings were consistent with homozygous familial hypercholesterolemia. To our knowledge, this is the first such case to be reported from China.
我们报告了一例 12 岁男性病例，该患者患有角膜弓和多发性皮肤损伤，并有 10 年的黄瘤病史。病变出现在手指、手、肘部、膝盖、臀部和脚部。实验室研究显示总血清胆固醇水平为 752.1mg/dL；甘油三酯水平为 96.6mg/dL；低密度脂蛋白胆固醇水平为 661.3mg/dL。检查结果符合家族性高胆固醇血症纯合子型。据我们所知，这是首例来自中国的此类病例报告。
