Brousseau T, Lecerf J M, Luc G, Devulder B, Fruchart J C, Amouyel P
INSERM U.325, Institut Pasteur de Lille, Clinique Médicale A, Hôpital Huriez.
Presse Med. 1995 Apr 29;24(16):769-72.
Familial defective apolipoprotein B-100, caused by a mutation in position 3500 of apolipoprotein B, induces hypercholesterolaemia, a major risk factor of coronary artery disease. The objective is to evaluate the interest of the detecting subjects bearing the Arg3500-->Gln mutation and to observe the response of these subjects to different physiological and therapeutic situations, in clinical practice.
We performed a systematic screening among hypercholesterolaemic outpatients attending a lipid clinic. The heterozygote subjects were followed up during more than one year and, in some of them, we compared the efficiency of cholesterol-lowering drugs belonging to the different classes: fibrate and statine.
Two probands and 3 related subjects were detected. Three patients were treated. For two patients, reduction of LDL-cholesterol plasma levels was observed with both drugs but was significantly higher with statine than with fibrate. For the third one, carrying the E2E4 phenotype, the statine did not seemed to have a major effect.
The number of probands is in agreement with the frequency reported in literature. A possible interaction of the effect of statine with the apo E2 isoform is discussed.
载脂蛋白B第3500位的突变所导致的家族性缺陷载脂蛋白B - 100可引发高胆固醇血症，这是冠状动脉疾病的一个主要危险因素。目的是在临床实践中评估检测携带Arg3500→Gln突变个体的意义，并观察这些个体对不同生理和治疗情况的反应。
我们对一家血脂门诊的高胆固醇血症门诊患者进行了系统筛查。对杂合子个体进行了一年多的随访，并且在其中一些个体中，比较了不同类别的降胆固醇药物（贝特类和他汀类）的疗效。
检测到两名先证者和3名相关个体。对3名患者进行了治疗。对于两名患者，两种药物均观察到低密度脂蛋白胆固醇血浆水平降低，但他汀类药物的降低幅度显著高于贝特类药物。对于第三名携带E2E4表型的患者，他汀类药物似乎没有显著效果。
先证者的数量与文献报道的频率一致。讨论了他汀类药物的作用与载脂蛋白E2亚型之间可能存在的相互作用。
