家族性高胆固醇血症

Familial Hypercholesterolemia

家族性高胆固醇血症(FH)是一组以LDL代谢异常为主要特征的常染色体(共)显性遗传疾病,是儿童期常见的遗传性疾病之一,也是脂质代谢疾病中较为严重的一种,可导致各种危及生命的心血管疾病及其并发症。近年来,随着国内外对该疾病认识的深入及新型降脂药物的研发,FH的治疗策略愈发多样化。但目前FH的知晓率和诊断率均较低,治疗状况较差,为了加强社会对该疾病的认识,本文对FH的流行病学、诊断与筛查、治疗予以总结。

Familial hypercholesterolemia(FH)is a group of autosomal co-dominant genetic diseases mainly characterized by abnormal low-density lipoprotein related metabolism.It is one of the most common inherited diseases in children and one of the most serious lipid metabolism diseases which results in various life-threatening cardiovascular diseases and the complications.In recent years,the treatment protocols for FH have diversified thanks to the deeper understanding of the disease in China and abroad and the development of new lipid-lowering drugs.However,the current awareness and diagnosis rate of FH are very low.The treatment of the disease is much inadequate.This paper summarizes the clinical characteristics,diagnosis,screening strategy,and treatment of FH hoping to enhance the understanding and awareness of the disease in the society.