摘要目的:分析国际血脂异常调查-中国研究（DYSIS-China）数据库中家族性高胆固醇血症（FH）的发病现状、血脂状况及心血管疾病发病情况。方法:选取2012年3—10月DYSIS-China数据库中，年龄≥45岁、至少接受1种降脂药物治疗3个月的血脂异常患者。根据荷兰脂质临床监测指南（DLCN）中FH的诊断标准，将患者分为不太可能FH组、可能FH组、确诊/极可能FH组。收集并比较3组患者的年龄、性别、血脂水平、用药情况及合并症等基本临床资料，并对可能FH组和确诊/极可能FH组按年龄进行分层比较。结果:共纳入23 973例血脂异常的患者，年龄（64.8±9.9）岁，女性11 757例（49.0%），不太可能FH组20 561例（85.7%），可能FH组3 294例（13.7%），确诊/极可能FH组118例（0.5%）。确诊/极可能FH组年龄（58.4±8.5）岁，低于不太可能FH组（65.3±9.8）岁和可能FH组（61.8±9.9）岁；低密度脂蛋白胆固醇（5.6±1.9）mmol/L，高于不太可能FH组（2.5±0.9）mmol/L和可能FH组（4.3±1.0）mmol/L，总胆固醇（7.4±1.8）mmol/L，高于不太可能FH组（4.3±1.0）mmol/L和可能FH组（6.0±1.0）mmol/L；女性、久坐生活方式比例及收缩压高于其他两组（ P均<0.05）。3组间服用他汀剂量的差异无统计学意义。确诊/极可能FH组缺血性心脏病为70例（59.3%），与不太可能FH组7 519例（36.6%）和可能FH组1 149例（34.9%）相比较高；高血压82例（69.5%），高于可能FH组2 063例（62.6%）和不太可能FH组13 928例（67.7%）。可能FH组55~64岁年龄段比例最高，为1 146例（34.8%），≥75岁组高血压358例（76.8%）、糖尿病189例（40.6%）、缺血性心脏病186例（39.9%）、脑血管疾病149例（32.0%）及心力衰竭28例（6.0%）患病率最高（ P均<0.05）。确诊/极可能FH组55~64岁年龄段比例最高，为49例（41.52%），45~54岁组缺血性心脏病患病率最高，为70例（59.3%）（ P均<0.05），糖尿病、高血压、心力衰竭、外周动脉疾病及脑血管疾病患病情况在各年龄组中差异无统计学意义。 结论:中国血脂异常患者的FH检出率并不低，但血脂水平控制不佳，心血管疾病发病风险较高。

abstractsObjectives:To analyze the incidence, blood lipid levels and cardiovascular disease of familial hypercholesterolemia (FH) in dyslipidemia patients receiving lipid-lowing therapy from the DYSIS-China.Methods:Dyslipidemia International Study-China (DYSIS-China) database was re-analyzed according to the criteria of "Chinese guidelines for prevention and treatment of dyslipidemia in adults-2016 version". DYSIS-China database included 25 317 dyslipidemia out-patients who received at least one lipid-lowering drug for at least three months. All the patients were divided into three groups: unlikely HF , possible FH and definite FH according to the Dutch Lipid Clinic Network diagnostic criteria. Age, gender , lipids levels , drug use and complications were compared among the three groups. Factors were compared between Possible FH group and definite FH group in terms of age stratification. Results:A total of 23 973 patients with dyslipidemia were included. The average age was (64.8±9.9) years , 11 757 patients were females (49.0%). The proportion of unlikely FH in the total population was 20 561 (85.7%) , possible FH was 3294 (13.7%) , and the definite FH was 118(0.5%). Patients in the definite FH group (58.3±8.5 years) was younger than in unlikely HF(65.3±9.8 years) and possible FH(61.8±9.9 years) group. LDL-C ((5.6±1.9) mmol/L) levels were significantly higher in definite FH group than in unlikely HF ((2.5±0.9) mmol/L) and possible FH ((4.3±1.0) mmol/L) group. TC ((7.4±1.8) mmol/L) levels were also significantly higher in definite FH group than in unlikely HF ((4.3±1.0) mmol/L) and possible FH ((6.0±1.0) mmol/L) group. Percent of female sex, sedentary lifestyle and systolic blood pressure value were significantly higher in definite FH group than in other two groups (all P<0.05). Statin use was similar among the 3 groups. Prevalence of ischemic cardiomyopathy (70(59.3%)) was significantly higher in the definite FH group than in unlikely FH group7519 (36.6%) and possible FH group1149 (34.9%). The rate of hypertension (82 (69.5%)) was also significantly higher in the definite FH group than in unlikely FH group (2 063 (62.6%) and in possible FH group (13 928 (67.7%)). The possible FH group had the highest proportion of patients aged 55-64 years (1 146 (34.8%)), and the prevalence of hypertension 358 (76.8%), diabetes 189 (40.6%), ischemic heart disease 186 (39.9%), cerebrovascular disease 149 (32.0%) and heart failure 28 (6.0%) was the highest in patients over 75 years old. The definite FH group had the highest proportion of patients aged 55-64 years (49 (41.52%)), and the prevalence of ischemic heart disease (70 (59.3%)) was the highest in patients aged 45-54 years old group, there was no significant difference in the prevalence of diabetes,hypertension,heart failure,peripheral artery disease and cerebrovascular disease among different age groups. Conclusion:The detection rate of FH in Chinese patients with dyslipidemia is not low , the blood lipid level is poorly controlled , and the risk of cardiovascular disease is high in Chinses FH patients.