家族性高胆固醇血症临床诊治的新进展

The New Progress of Clinical Diagnosis and Treatment for Familial Hypercholesterolaemia and Dyslipidaemias

家族性高胆固醇血症（FH）是一种常染色体显性遗传性疾病,其常见特征主要是血浆低密度脂蛋白胆固醇（LDLC）升高,皮肤/肌腱黄瘤和早发冠心病（CAD）。FH患者CAD风险极高,因此早期做出正确的诊断并同时给予适当的治疗控制LDLC水平是至关重要的。根据欧洲最新调查研究显示按照1/200~1/500的FH杂合患病率计算,全世界FH杂合患者总数约达1400万~3400万。然而大多数国家包括我国在内的FH诊断率仅不足1%,因此对于有较高CAD风险的FH患者的早期诊断和治疗已成为全世界亟待解决的问题。本文将根据国际最新FH患者诊治指南进行相关综述,为我国FH患者制定相应的管理指南提供相应依据。

Familial hypercholesterolemia（ FH） is an autosomal dominant monogenic disease characterized by elevated total and low-density lipoprotein（ LDL） cholesterol levels in plasma,skin and tendon xanthomata,premature cardiovascular disease（ CAD）. Because of the high risk of CAD in FH patients,an early and correct diagnosis and appropriate treatment for controlling LDLC levels is crucial. According to the latest research in Europe displaying the prevalence of 1 /200 ~ 1 /500,it is preliminarily estimated that there are 14 ~ 34 million heterozygous FH in the world. However, 1% are diagnosed in most countries including our country. Therefore,the early diagnosis and treatment of FH patients with higher risk of CAD have become a serious problem worldwide. This article will review the associated FH patients according to the latest international treatment guidelines,provide a basis for appropriate guidelines of our management of FH patients.