家族性高胆固醇血症研究进展

摘要/Abstract

摘要：

家族性高胆固醇血症（FH）是一种常染色体遗传病，是脂质代谢通路中低密度脂蛋白受体（LDLR）、载脂蛋白B（ApoB）或前蛋白转化酶枯草杆菌蛋白酶9（PCSK9）基因突变导致血清低密度脂蛋白胆固醇（LDL-C）水平显著升高所致。FH的危害远高于普通的高胆固醇血症，其中纯合型FH可导致患者在20岁之前就会发展成冠心病，寿命一般不超过30岁；杂合型FH患者若不进行及时治疗，通常男性在55岁之前，女性在60岁之前会发展成冠心病。未进行他汀治疗的FH患者冠心病的发病风险较普通人群增加13倍甚至更高。我国杂合型FH患者预计有260～650万例。尽管他汀类药物等降脂治疗已明确能延缓或防止FH患者心脑血管疾病的发生，但由于很多患者在早期不知道自己患FH，或是知道血脂异常但不了解此病危害，导致大量患者治疗延误，往往直到发生心脑血管疾病才开始降脂治疗，给家庭及社会带来沉重负担。鉴于以上原因，本研究梳理了FH流行病学、遗传学研究的进展，指出采用适当的筛查手段在中国开展血脂筛查，并对可能的FH患者进行基因诊断，尽早发现及精准管理高风险患者是改善FH管理的重要手段。

关键词: 家族性高胆固醇血症（FH）, 低密度脂蛋白受体（LDLR）, 载脂蛋白B（ApoB）, 前蛋白转化酶枯草杆菌蛋白酶9（PCSK9）, 早期筛查

Abstract:

Familial hypercholesterolemia （FH） is an autosomal genetic disorder. The cause of FH is a significant increase in LDL-C levels due to mutations in low-density lipoprotein receptor （LDLR）， apolipoprotein B （ApoB） or the proprotein convertase subtilisin/kexin type 9 （PCSK9） genes. FH is much more harmful than common hypercholesterolemia. Homozygote FH can cause patients to develop coronary heart disease （CHD） before the age of 20， and life expectancy is generally not more than 30 years old. Heterozygote FH patients usually develop CHD before the age of 55 in men and before the age of 60 in women if untreated. FH patients untreated with statins have a 13-fold or higher risk of CHD compared to the general population. It is estimated that there are 2.6 to 6.5 million cases of heterozygote FH in China. Although lipid-lowering treatment such as statins has clearly delayed or prevented the occurrence of coronary vascular and cerebrovascular disease in FH patients， many patients do not know they have FH at the early stage， or know dyslipidemia but do not understand the harm of the disease， resulting in delayed treatment for a large number of patients. Lipid-lowering therapy is often not initiated until coronary vascular and cerebrovascular disease have developed， which imposes a heavy burden on families and society. In view of the above reasons， this study reviewed the research progress on epidemiology and genetics of FH， and pointed out that the adoption of appropriate methods for lipid screening， gene diagnosis for possible FH patients， as well as early detection and precise management of these high-risk patients are important measures to improve the management level of FH in China.

Key words: Familial hypercholesterolemia , （FH）； , Low-density lipoprotein receptor , （LDLR）； , Apolipoprotein B , （ApoB）； , Proprotein convertase subtilisin/kexin type 9 , （PCSK9）； , Early screening

中图分类号:

R589.2

高岩, 王晓建.

家族性高胆固醇血症研究进展 [J]. 中国医药导刊, 2024, 26(1): 94-98.

GAO Yan, WANG Xiaojian.

Research Progress on Familial Hypercholesterolemia [J]. CHINESE JOURNAL OF MEDICINAL GUIDE, 2024, 26(1): 94-98.

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