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高脂蛋白血症是一种由于细胞表面低密度脂蛋白(LDL)受体异常而引起的共显性遗传性脂蛋白代谢紊乱.该带病基因在人群中的杂合率为1/500,纯合率为1/10000纯合子患者血中胆固醇含量为正常人的5倍.儿童时期发生严重的冠状动脉疾病,20岁前常死于心肌梗塞.
Hyperlipoproteinemia is a co-dominant inherited lipoprotein metabolism disorder caused by an abnormality of the cell surface low density lipoprotein (LDL) receptor.The heterozygous rate of this diseased gene in a human population is 1/500, The rate of homozygote is 1/10000 and the blood cholesterol level is 5 times of that of normal people.Serious coronary artery disease occurs in childhood and often dies of myocardial infarction before the age of 20.