The diagnostic value of genetic testing in familial hypercholesterolemia in patients with premature myocardial infarction
10.3760/cma.j.cn112148-20231011-00305
- VernacularTitle:早发心肌梗死患者基因检测对家族性高胆固醇血症的诊断价值评估
- Author:
Yuxia CUI
1
;
Junxian SONG
;
Zhongyou LI
;
Sufang LI
;
Chuanfen LIU
;
Hong CHEN
Author Information
1. 北京大学人民医院心内科 急性心肌梗死早期预警与干预北京市重点实验室 心血管转化医学研究中心，北京 100044
- Keywords:
Genetic test;
Familial hypercholesterolemia;
Premature myocardial infarction
- From:
Chinese Journal of Cardiology
2024;52(3):281-285
- CountryChina
- Language:Chinese
-
Abstract:
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.
