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家族性高胆固醇血症 (ＦＨ)是发生于ＬＤＬ受体上的常染色体显性遗传缺陷 ,导致早熟冠状动脉疾病 (ＣＡＤ) ,发生率为1∶5 0 0。家族性载脂蛋白Ｂ 10 0缺陷 (ＦＤＢ)是由 2号染色体上的ａｐｏＢ 10 0基因点突变造成的配基 受体结合异常。发生率亦为 1∶5 0 0 ,也可导致早熟ＣＡ
Familial hypercholesterolemia (FH) is an autosomal dominant defect in LDL receptors that leads to premature coronary artery disease (CAD) in an incidence of 1: 500. Familial apolipoprotein B 10 0 deficiency (FDB) is a ligand receptor binding abnormality caused by a point mutation in the apoB10 0 gene on chromosome 2. The incidence is also 1: 500, which can also lead to precocious CA.