家族性高胆固醇血症:最佳治疗策略。

C M Ballantyne
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引用次数: 0

摘要

家族性高胆固醇血症(FH)是一种遗传性代谢疾病,其特征是低密度脂蛋白(LDL)受体缺陷、低密度脂蛋白胆固醇(LDL- c)水平升高和过早心血管疾病的极高风险。在美国和欧洲,每500个人中就有一人患有杂合子型FH。FH的高患病率和相关的发病率和死亡率强烈支持积极的筛查和治疗。有效管理FH存在两个主要障碍:1)未能对可能面临该病风险增加的人群进行该病筛查;2)大多数可用的治疗方法无法实现LDL-C目标。更积极的筛选,加上新的遗传筛选技术,以及更强大的3-羟基-3-甲基戊二酰辅酶A (HMG-CoA)还原酶抑制剂有可能克服这些限制。自动化基因分析现在可用于检测有FH风险的个体中常见的LDL受体突变,并且它们已被有效地用于识别患有这种疾病的患者。新合成他汀类药物瑞舒伐他汀(Crestor;阿斯利康,Alderley Park, Macclesfield, Cheshire, UK;Shionogi & Co, Ltd, Osaka, Japan)在杂合子FH患者中的研究表明,它可以降低58%的LDL-C,增加12%的高密度脂蛋白胆固醇(HDL-C)。瑞舒伐他汀在改善这些脂质参数以及总胆固醇、载脂蛋白(apo) B、载脂蛋白A-I和LDL-C/HDL-C比值方面明显优于大剂量阿托伐他汀。因此,新的筛查工具和医学疗法有可能显著改善FH患者的管理并降低心血管疾病风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Familial hypercholesterolaemia: optimum treatment strategies.

Familial hypercholesterolaemia (FH) is a hereditary metabolic disorder characterised by defects in the low-density lipoprotein (LDL) receptor, elevated LDL cholesterol (LDL-C) levels and an extremely high risk for premature cardiovascular disease. Heterozygous FH occurs in about one of every 500 individuals in the United States and Europe. The high prevalence of FH and associated morbidity and mortality strongly support aggressive screening and treatment. There are two major barriers to effective management of FH: 1) the failure to screen for this disease in people who may be at increased risk for it; and 2) the inability of most available therapies to enable achievement of LDL-C goals. More aggressive screening, coupled with new genetic screening techniques, and more powerful 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors have the potential to overcome these limitations. Automated genetic assays are now available for detection of common LDL receptor mutations in individuals at risk for FH, and they have been used effectively to identify patients with this condition. Recent clinical trial results with the new synthetic statin rosuvastatin (Crestor; AstraZeneca, Alderley Park, Macclesfield, Cheshire, UK; licensed from Shionogi & Co, Ltd, Osaka, Japan) in patients with heterozygous FH have shown that it decreased LDL-C by 58% and increased high-density lipoprotein cholesterol (HDL-C) by 12%. Rosuvastatin was significantly superior to high-dose atorvastatin in improving these lipid parameters as well as total cholesterol, apolipoprotein (apo) B, apo A-I, and the LDL-C/HDL-C ratio. Thus, new screening tools and medical therapies have the potential to significantly improve management and reduce cardiovascular disease risk for patients with FH.

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