Schmidt E B, Illingworth D R, Bacon S, Russell S J, Thatcher S R, Mahley R W, Weisgraber K H
Department of Medicine, Oregon Health Sciences University, Portland 97201-3098.
Metabolism. 1993 Feb;42(2):137-9. doi: 10.1016/0026-0495(93)90026-k.
Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder associated with hypercholesterolemia, in which an amino acid substitution in apolipoprotein B-100 results in low-density lipoprotein (LDL) particles that bind poorly to the LDL receptor and accumulate in plasma. Patients with FDB described to date have been heterozygous for this disorder, and their plasma contains both normal and defective-binding LDL particles. We have evaluated the hypocholesterolemic effects of nicotinic acid (3 g/d) in four patients with FDB, and compared the response to that of nine patients with heterozygous familial hypercholesterolemia (FH). Concentrations of LDL decreased by 24% in patients with FDB and by 14% in patients with FH. These results support the view that drugs which reduce LDL synthesis may be particularly effective in the treatment of patients with FDB.
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显性遗传性疾病，其中载脂蛋白B-100中的氨基酸替换导致低密度脂蛋白（LDL）颗粒与LDL受体结合不良并在血浆中积聚。迄今为止描述的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缺陷结合的LDL颗粒。我们评估了烟酸（3 g/天）对4例FDB患者的降胆固醇作用，并将其反应与9例杂合子家族性高胆固醇血症（FH）患者的反应进行了比较。FDB患者的LDL浓度降低了24%，FH患者降低了14%。这些结果支持这样一种观点，即减少LDL合成的药物可能对FDB患者的治疗特别有效。
