关于建立中国家族性高胆固醇血症新简化诊断标准的探索性研究  

An Exploratory Study on the Establishment of a Novel Diagnostic System With Simplified Criteria for Defining Familial Hypercholesterolemia in Chinese Patients

作　　者：曹晔萱 孙荻 刘慧慧[1] 靳景璐 李莎[1] 郭远林[1] 吴娜琼[1] 朱成刚[1] 高莹[1] 刘庚[1] 董倩[1] 李建军[1] CAO Yexuan;SUN Di;LIU Huihui;JIN Jinglu;LI Sha;GUO Yuanlin;WU Naqiong;ZHU Chenggang;GAO Ying;LIU Geng;DONG Qian;LI Jianjun(Division of Dyslipidemia, National Center for Cardiovascular Diseases and Fuwai Hospital, CAMS and PUMC, Beijing,(100037),China)

机构地区：[1]中国医学科学院北京协和医学院国家心血管病中心阜外医院血脂异常与心血管病中心

出　　处：《中国循环杂志》2019年第6期533-538,共6页Chinese Circulation Journal

基　　金：首都卫生发展科研专项项目(2016-1-4035);中国医学科学院医学与健康科技创新工程(2016-CXGC05-4)

摘　　要：目的:家族性高胆固醇血症(FH)现有的诊断标准复杂且不完全适用于中国人群,故本研究拟探索一种基于中国人群的新的家族性胆固醇血症简化诊断标准(Chinese Simplified Criteria for Familial Hypercholesterolemia,CSCFH)的可靠性。方法:连续纳入2011年11月至2018年5月就诊于阜外医院血脂中心的12 901例住院患者,并收集临床特征、实验室检查和基因检测等数据。FH的诊断基于Simon Broome(SB)标准、荷兰脂质诊所网络(DLCN)标准和CSCFH,并分析CSCFH相对于上述两个标准的敏感度、特异度和一致性。结果:12 901例受试者中,根据DLCN、SB和CSCFH标准,FH的患病率分别为1.73%(223/12 901),1.57%(202/12 901)和1.59%(205/12 901)。与DLCN和SB标准相比,CSCFH显示出高灵敏度(91.9%和100%)、高特异度(100%和99.9%)和良好的一致性(κ=0.957;κ=0.993)。当根据不同地区对受试者进行分层分析时,CSCFH得到了相似的结果。结论:CSCFH与现有标准相比具有高敏感度和特异度,临床上更易于使用,未来需要进一步开展更大规模的前瞻性研究来评估该标准的可行性和可靠性。Objectives: The current diagnostic criteria for familial hypercholesterolemia(FH) are complex and not fully applicable to Chinese population. This study aimed to explore the reliability of a newly developed Chinese Simplified Criteria for FH(CSCFH).Methods: We recruited 12 901 hospitalized participants undergoing routine blood biochemistry test in our center from November 2011 to May 2018. Clinical characteristics, laboratory examination and genetic testing results were analyzed.FH was diagnosed based on the Simon Broome(SB) criteria, Dutch Lipid Clinic Network(DLCN) criteria and CSCFH,respectively. The sensitivity, specificity and agreement of CSCFH to these existing criteria were investigated.Results: Out of 12 901 participants reviewed, the prevalence of FH was 1.73%(223/12 901), 1.57%(202/12 901) and1.59%(205/12 901) based on DLCN, SB and CSCFH criteria, respectively. Compared to the DLCN and SB criteria, the sensitivity(91.9% and 100%), specificity(100% and 99.9%) and agreement(κ=0.957 and 0.993) of CSCFH were satisfactory.Similar results were found when patients were stratified by residents living in North and South China using CSCFH system.Conclusions: CSCFH diagnostic criteria are comparable to the existing criteria with high sensitivity and specificity,and are easier to use clinically. Further larger prospective studies are needed to evaluate the feasibility and reliability of this system on defining FH in Chinese patients.

关 键 词：家族性高胆固醇血症 诊断 简化标准 中国人群 

分 类 号：R54[医药卫生—心血管疾病]