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.
Abstract
Objectives:To observe the clinical characteristics of familial chylomicronemia syndrome (FCS) in Chinese population and explore the suitable diagnostic criteria of FCS in China.Methods:We screened 6856 patients with triglyceride ≥10 mmol/L from 9 hospitals in China between January 2010 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 lipid-lowering 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 population.
维普
万方数据