Ceska R, Vrablík M, Horínek A
Third Medical Clinic, First Faculty of Medicine and Prague General Hospital, Czech Republic.
Physiol Res. 2000;49 Suppl 1:S125-30.
Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a substitution of glutamine for arginine at residue 3500 of the apolipoprotein B-100 molecule. We have identified 23 heterozygotes and one homozygote for FDB (frequency 1:20) in a group of 510 patients with hypercholesterolemia. Mean age of the patients (18 females and 6 males) was 46 years. The diagnosis of FDB was based on point mutation PCR analysis of exon 26 of the apo B gene. Plasma lipids in heterozygous patients were: total cholesterol 8.76+/-1.2 mmol/l, triglycerides 1.42+/-0.5 mmol/l, HDL-cholesterol 1.43+/-0.3 mmol/l, LDL-cholesterol 6.69+/-1.2 mmol/l, apoB 1.69+/-0.4 g/l, Lp(a) 0.26+/-0.2 g/l. The most frequent apoE genotype was 3/3 (19 patients), apoE 3/4 genotype was found in 3 patients and one person had apoE 2/3. Xanthelasma palpebrarum was present in 4 patients and tendon xanthomas in 3 patients including the homozygote. Premature manifestation of coronary heart disease was revealed in 3 patients. Sixteen patients were treated with statins, a combination of statin and resin was used in 2 patients (including the homozygote), whereas six patients were treated with the diet only. We conclude that although the plasma lipid levels of total and LDL cholesterol in FDB patients are lower than in patients with familial hypercholesterolemia, the patients with FDB suffer from premature atherosclerosis. The therapeutic approach to FDB individuals and patients with familial hypercholesterolemia is very similar.
家族性载脂蛋白B-100缺陷（FDB）是一种遗传性疾病，由载脂蛋白B-100分子第3500位残基处的精氨酸被谷氨酰胺替代引起。我们在一组510例高胆固醇血症患者中鉴定出23例FDB杂合子和1例纯合子（频率为1:20）。患者（18名女性和6名男性）的平均年龄为46岁。FDB的诊断基于载脂蛋白B基因第26外显子的点突变PCR分析。杂合子患者的血脂水平为：总胆固醇8.76±1.2 mmol/L，甘油三酯1.42±0.5 mmol/L，高密度脂蛋白胆固醇1.43±0.3 mmol/L，低密度脂蛋白胆固醇6.69±1.2 mmol/L，载脂蛋白B 1.69±0.4 g/L，脂蛋白(a) 0.26±0.2 g/L。最常见的载脂蛋白E基因型是3/3（19例患者），3例患者为载脂蛋白E 3/4基因型，1人为载脂蛋白E 2/3。4例患者出现睑黄瘤，3例患者（包括纯合子）出现肌腱黄色瘤。3例患者出现冠心病过早表现。16例患者接受他汀类药物治疗，2例患者（包括纯合子）使用他汀类药物和树脂联合治疗，而6例患者仅接受饮食治疗。我们得出结论，尽管FDB患者的总胆固醇和低密度脂蛋白胆固醇血浆水平低于家族性高胆固醇血症患者，但FDB患者仍患有过早动脉粥样硬化。FDB个体和家族性高胆固醇血症患者的治疗方法非常相似。
