家族性高胆固醇血症是由编码低密度脂蛋白(LDL)受体的基因变异所致。LDL受体的正常作用是从循环中清除运载胆固醇的LDL。纯合子家族性高胆固醇血症的患者很少或不产生LDL受体,因此从血浆中清除LDL的速度很慢而易导致血浆中LDL、总胆固醇显著增高。这些患者几乎总在儿童时期就患有严重的动脉粥样硬化,多在20岁以 Familial hypercholesterolemia is caused by genetic variations that encode low-density lipoprotein (LDL) receptors. The normal role of LDL receptors is to clear cholesterol-laden LDL from the circulation. Patients with homozygous familial hypercholesterolemia have little or no LDL receptor and therefore LDL clearance from plasma is slow and easily leads to a significant increase in plasma LDL and total cholesterol. These patients almost always have severe atherosclerosis during childhood, mostly at the age of 20