Objective: To evaluate the diagnostic value of gene testing in familial hypercholesterolemia (FH) in patients with premature myocardial infarction(PMI). Methods: This study was a single center cross-sectional study. A retrospective analysis was made on PMI patients who visited the People's Hospital of Peking University from May 1, 2015 to March 31, 2017. Clinical data of patients was collected and gene testing of FH related genes low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 (PCSK9), apolipoprotein B(APOB) and low density lipoprotein receptor adaptor protein 1(LDLRAP1) was carried out. Clinical diagnosis of FH patients was performed using Simon Broome criteria, DLCN criteria, and FH Chinese expert consensus. Results: There were 188 males (83.6%) among 225 PMI patients, and the age of the first myocardial infarction was (46.6±7.2) years old. Ten patients carried FH pathogenic or possibly pathogenic mutations (4.4%). Compared with Simon Broome standard, DLCN standard and FH Chinese expert consensus, gene testing increased the diagnostic rate of FH by 53.3%, 33.3% and 42.1% respectively. Conclusion: Gene testing is helpful to improve the diagnosis of FH, and it is important to start the standard treatment of FH as early as possible in patients with premature myocardial infarction.
目的： 在早发心肌梗死患者中评估基因检测对家族性高胆固醇血症（FH）的诊断价值。 方法： 该研究为单中心横断面研究。选取2015年5月1日至2017年3月31日在北京大学人民医院就诊的早发心肌梗死患者，收集患者的一般临床资料，进行FH相关基因低密度脂蛋白受体（LDLR）、前蛋白转化酶枯草溶菌素9（PCSK9）、载脂蛋白B（APOB）和低密度脂蛋白受体衔接因子蛋白1（LDLRAP1）的基因检测。临床诊断分别采用Simon Broome标准、DLCN标准和FH中国专家共识诊断FH患者。 结果： 225例早发心肌梗死患者中，男性188例（83.6%），首次心肌梗死的年龄为（46.6±7.2）岁。共有10例（4.4%）患者携带FH致病或可能致病的突变。较单独采用Simon Broome标准、DLCN标准和FH中国专家共识3种临床标准，基因检测使FH的诊断率分别提高了53.3%，33.3%和42.1%。 结论： 基因检测有助于提高FH的诊断，对早发心肌梗死患者及早启动FH的规范治疗具有重要的意义。.