Schmidt E B, Illingworth D R, Bacon S, Mahley R W, Weisgraber K H
Department of Medicine, Oregon Health Sciences University, Portland 97201-3098.
Atherosclerosis. 1993 Jan 25;98(2):213-7. doi: 10.1016/0021-9150(93)90130-m.
Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder associated with hypercholesterolemia, in which substitution of the amino acid glutamine for arginine at position 3500 in the apoprotein B molecule results in LDL particles which bind poorly to the LDL receptor. To date, patients with FDB have been heterozygous for this disorder and their plasma contains both normal and defective-binding LDL particles, with a predominance of the latter. In the present report, we have compared the hypocholesterolemic effects of bile acid sequestrant therapy (cholestyramine or colestipol) in eight patients with FDB, to the response seen in sixteen patients with heterozygous familial hypercholesterolemia (FH), treated with the same drugs. Concentrations of LDL cholesterol fell by 32.0% in the patients with FDB and by 21.6% in the patients with FH. The results indicate that the hypercholesterolemia of both FDB and FH responds to treatment with bile acid sequestrants.
家族性载脂蛋白B-100缺陷症（FDB）是一种与高胆固醇血症相关的常染色体显性遗传病，其中载脂蛋白B分子第3500位氨基酸由精氨酸被谷氨酰胺替代，导致低密度脂蛋白（LDL）颗粒与LDL受体结合不佳。迄今为止，FDB患者均为该疾病的杂合子，其血浆中同时含有正常结合和结合缺陷的LDL颗粒，以后者为主。在本报告中，我们比较了8例FDB患者接受胆汁酸螯合剂治疗（考来烯胺或考来替泊）后的降胆固醇效果，以及16例接受相同药物治疗的杂合子家族性高胆固醇血症（FH）患者的反应。FDB患者的LDL胆固醇浓度下降了32.0%，FH患者下降了21.6%。结果表明，FDB和FH的高胆固醇血症对胆汁酸螯合剂治疗均有反应。
