Choumerianou Despoina M, Dedoussis George V Z
Department of Science of Dietetics-Nutrition, Harokopio University of Athens, Greece.
Clin Chem Lab Med. 2005;43(8):793-801. doi: 10.1515/CCLM.2005.134.
Familial hypercholesterolemia is an autosomal dominant disease defined at the molecular level mainly by the presence of mutations in the low-density lipoprotein receptor gene and is characterized by elevated low-density lipoprotein cholesterol, tendon xanthomas and increased risk of early cardiovascular disease. The type of mutation in the low-density lipoprotein receptor gene has been associated with different phenotype expression and response to statins. Several studies have been undertaken to assess the efficacy of statins and evaluate the influence of mutations on the response to treatment with statins. Not all patients respond to statin therapy with a reduction in cardiovascular disease. In this review paper, we will discuss the results available to date that correlate the low-density lipoprotein receptor genotype to the response to statins, and the interest in developing diagnostic systems which will allow identification of patients at increased risk of adverse drug reactions or patients in which a therapeutic effect is lacking.
家族性高胆固醇血症是一种常染色体显性疾病，在分子水平上主要由低密度脂蛋白受体基因突变的存在所定义，其特征为低密度脂蛋白胆固醇升高、肌腱黄色瘤以及早期心血管疾病风险增加。低密度脂蛋白受体基因的突变类型与不同的表型表达以及对他汀类药物的反应相关。已经开展了多项研究来评估他汀类药物的疗效，并评价突变对他汀类药物治疗反应的影响。并非所有患者接受他汀类药物治疗后心血管疾病都会减轻。在这篇综述论文中，我们将讨论迄今可得的将低密度脂蛋白受体基因型与他汀类药物反应相关联的结果，以及开发诊断系统的意义，该系统将能够识别药物不良反应风险增加的患者或缺乏治疗效果的患者。
