中国家族性高乳糜微粒血症患者的临床特征及诊断标准探索  

An Exploratory Study on the Clinical Characteristics and Diagnostic Criteria of Familial Chylomicronemia Syndrome in Chinese Population:a Cohort Study

作　　者：谢坤 伍莎 唐熠达 祝烨[4] 李建平[5] 秦彦文[6] 黄恺[7] 卜蓓莉 吴延庆[9] 彭道泉[2] 李勇 XIE Kun;WU Sha;TANG Yida;ZHU Ye;LI Jianping;QIN Yanwen;HUANG Kai;BU Beili;WU Yanqing;PENG Daoquan;LI Yong(Department of Cardiology,Huashan Hospital,Fudan University,Shanghai 200040,China;Department of Cardiology,The Second Xiangya Hospital,Central South University,Changsha 410011;Department of Cardiology,Peking University Third Hospital,Beijing 100191,China;Department of Cardiology,West China Hospital,Sichuan University,Chengdu 610041,China;Department of Cardiology,Peking University First Hospital,Beijing 100034,China;Department of Cardiology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;Department of Cardiology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022,China;Department of Cardiology,Qilu Hospital,Shandong University,Jinan 250012,China;Department of Cardiology,The Second Affiliated Hospital of Nanchang University,Nanchang 330006,China)

机构地区：[1]复旦大学附属华山医院心内科,上海200040 [2]中南大学湘雅二医院心内科,长沙410011 [3]北京大学第三医院心内科,北京100191 [4]四川大学华西医院心内科,成都610041 [5]北京大学第一医院心内科,北京100034 [6]首都医科大学附属北京安贞医院心内科,北京100029 [7]华中科技大学同济医学院附属协和医院心内科,武汉430022 [8]山东大学齐鲁医院心内科,济南250012 [9]南昌大学第二附属医院心内科,南昌330006

出　　处：《中国循环杂志》2024年第12期1199-1205,共7页Chinese Circulation Journal

基　　金：北京杰凯心血管健康基金会(2023-015)。

摘　　要：目的:观察中国家族性高乳糜微粒血症(FCS)患者的临床特征,探讨适合中国临床实践的FCS诊断标准。方法:筛选中国9家医院自2010年1月至2023年12月期间就诊的6856例空腹甘油三酯≥10 mmol/L患者,收集其中102例高度疑似FCS患者的完整临床信息,完善FCS相关基因检测,拟定FCS诊断标准并分析确诊FCS患者的临床特征,应用美国FDA定义的FCS诊断标准对本研究中确诊FCS患者进行验证。同时在上述部分医院筛选的空腹甘油三脂≥10 mmol/L的人群中,探究依据拟定的中国FCS诊断标准的患病率。结果:参考该疾病欧美诊断标准并结合中国临床实践初步拟定中国FCS诊断标准:(1)标准降脂治疗后空腹甘油三酯≥10 mmol/L;(2)至少合并下述一项:FCS相关基因检测阳性,或有高甘油三酯血症性胰腺炎(HTGP)家族史,或有青少年胰腺炎病史或成年HTGP病史,或有不明原因反复腹痛住院病史。根据该标准,在纳入分析的102例患者中,60例(58.82%)初步确诊为FCS,平均年龄(43.0±8.6)岁,男性占70%,平均甘油三酯水平为(20.0±15.0)mmol/L,其中6例(10.0%)检出FCS相关基因突变,均为脂蛋白脂肪酶基因突变;其中51例(85.0%)有急性胰腺炎病史,28例(46.7%)有反复(≥2次)急性胰腺炎或不明原因腹痛病史。按照美国FDA定义的FCS诊断标准,本研究确诊的60例FCS患者中“可能为FCS”的患者占比98.3%(59/60),“确诊FCS”患者占比70.0%(42/60)。按照拟定的中国FCS诊断标准,甘油三酯≥10 mmol/L人群中FCS患病率约0.5%(33/6722)。结论:中国FCS患者的临床表现及遗传特征与欧美FCS患者基本一致,研究中拟定的FCS诊断标准可在中国人群中进一步验证及推广。Objectives:To observe the clinical characteristics of familial chylomicronemia syndrome(FCS)in Chinese population and explore the suitable diagnostic criteria of FCS in China.and December 2023.The overall clinical information was collected and FCS-related gene testing was performed in 102 patients with high suspicion of FCS.Demographic characteristics were analyzed and FCS diagnosis was drafted.The FDA FCS diagnostic criteria was used to verify the FCS patients diagnosed in this study.At the same time,the prevalence of FCS patients with fasting triglyceride≥10 mmol/L was explored in some of the above hospitals.Results:In this study,the diagnostic criteria for FCS in Chinese population were drafted based on European and American diagnostic criteria and Chinese clinical practice:(1)Fasting triglyceride≥10 mmol/L after standard lipidlowering treatment;(2)With one of the below-listed conditions:positive detection of FCS related genes;family history of hypertriglyceridemia pancreatitis(HTGP);history of pancreatitis in adolescence or adult HTGP;history of repeated hospitalization with unexplained abdominal pain.According to this criteria,60 were preliminarily diagnosed with FCS from the 102 patients enrolled.Their average age was(43.0±8.6)years old,male accounted for 70%,average triglyceride was(20.0±15.0)mmol/L.FCS related gene mutations were detected in 6 patients,all were lipoprotein lipase gene mutations.According to the American FCS diagnostic criteria,among the 60 FCS patients diagnosed in this study,the proportion of patients with"possible FCS"was 98.3%(59/60),and the proportion of patients with"confirmed FCS"was 70.0%(42/60).According to the diagnostic criteria of FCS patients in this study,the prevalence of FCS patients with TG≥10 mmol/L is about 0.5%(33/6722).Conclusions:The clinical and genetic characteristics of Chinese patients with FCS are consistent with those of European and American patients.The diagnostic criteria for FCS drafted in this study can be further verified and promoted in Chinese po

关 键 词：家族性高乳糜微粒血症 中国人群 临床特征 诊断标准 

分 类 号：R54[医药卫生—心血管疾病]