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.

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.