Milionis H J, Miltiadous G A, Cariolou M, Elisaf M S
Department of Internal Medicine, Medical School, University of Ioannina, Greece.
Acta Paediatr. 2003 Sep;92(9):1109-10.
The case is reported of a 2-y-old girl referred to the outpatient lipid clinic because of a tiny cutaneous xanthoma on the dorsum of the left foot and a family history of hyperlipidaemia and coronary heart disease (CHD). Fasting serum total cholesterol levels were remarkably high (27.1 mmol l(-1), 1050 mg dl(-1)) and DNA analysis confirmed homozygous familial hypercholesterolaemia (class II mutation). Serum lipids were not affected by dietary intervention and cholestyramine treatment, so low-density lipoprotein apheresis was scheduled to commence at the age of 4 y.
An early lipid profile determination should be performed in children with a family history of premature CHD, since the physical examination may be unremarkable even in cases of severe hyperlipidaemia during the first years of life.
报告了一名2岁女童因左脚背出现微小皮肤性黄色瘤以及有高脂血症和冠心病（CHD）家族史而被转诊至门诊脂质诊所。空腹血清总胆固醇水平显著升高（27.1 mmol/L，1050 mg/dl），DNA分析证实为纯合子家族性高胆固醇血症（II类突变）。血清脂质不受饮食干预和考来烯胺治疗的影响，因此计划在4岁时开始进行低密度脂蛋白单采。
对于有早发性冠心病家族史的儿童，应尽早进行血脂谱测定，因为即使在生命的最初几年出现严重高脂血症，体格检查也可能无异常表现。
