家族性高胆固醇血症诊治进展

Progress in the diagnosis and treatment of familial hypercholesterolemia

家族性高胆固醇血症(FH)是一种常染色体显性遗传性疾病,基因变异是其发病的主要原因之一。FH的发病率较高、危害性大,但目前尚未得到足够的重视。本文对FH患者的遗传学、临床表现、诊断标准、治疗方法等方面的研究及临床进展进行综述,以增进广大临床医生对FH患者的认识,规范FH的诊治。

Familial hypercholesterolemia （FH） is a highly prevalent autosomal dominant hereditary disease,in which genetic mutation plays a crucial role. Although FH has shown high morbidity and is life-threatening, the clinicians remain unawareness about FH yet. The article focuses on the recent genetic progresses,clinical manifestations,diagnos- tic criteria and therapeutic approach of FH, so as to enhance the general clinicians＇ recognization of FH patients and standardize the diagnosis and therapy of FH.