35-75 岁中国人群家族性高胆固醇血症的患病率及患者特征：中国心血管病多中心队列研究。
Prevalence and patient characteristics of familial hypercholesterolemia in a Chinese population aged 35-75 years: Results from China PEACE Million Persons Project.
机构信息
National Clinical Research Center for Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Center for Cardiovascular Diseases, Beijing, 100037, China.
Cardiometabolic Medicine Center, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, China.
出版信息
Atherosclerosis. 2022 Jun;350:58-64. doi: 10.1016/j.atherosclerosis.2022.03.027. Epub 2022 Apr 12.
BACKGROUND AND AIMS
Familial hypercholesterolemia (FH) is a genetic disorder with a high burden of arteriosclerotic cardiovascular disease. The prevalence of heterozygous FH is currently 0.2%-0.5% in Europe, while no such data has yet been published about the general population in China. We aimed to investigate the prevalence and characteristics of FH in a Chinese population aged 35-75 years.
METHODS
We used a nationwide general population from 31 provinces in mainland China (n = 1,059,936, age 35-75) based on the China PEACE (Patient-centered Evaluative Assessment of Cardiac Events) MPP (Million Persons Project). The diagnosis of FH was based on 2 (untreated LDL-C ≥4.7 mmol/L and first-degree relatives with premature ASCVD history) of the 3 diagnostic criteria from the Chinese expert consensus on diagnosis of FH (CEFH criteria). FH prevalence was estimated and clinical phenotypic characteristics were further analyzed.
RESULTS
The overall FH prevalence was 0.13% (95% confidence interval [CI], 0.12-0.14) by the CEFH criteria, and age and sex standardized FH prevalence was slightly lower (0.11%; 95%CI, 0.10-0.12). FH prevalence in female was twice as high as in male (0.16% vs. 0.08%, p < 0.001). Across different age groups, the prevalence also varied and peaked among 55-to 64-year-olds. Regarding geographical areas, the prevalence ranged from 0.19% in Eastern, to 0.11% in Central, and 0.08% in Western China (p < 0.001). Participants living in rural areas had a lower prevalence than urban participants (0.10% vs. 0.18%, p < 0.001). The rate of coronary artery disease in FH patients was 5 folds higher than in the general population (10.5% vs. 2.1%, p < 0.001). The rate of FH patients receiving lipid-lowering medications was 18.1%. None of the treated patients achieved guideline recommended LDL-C targets.
CONCLUSIONS
The prevalence of FH in the Chinese population aged 35-75 years was 0.13% (about 1 in 769) defined by 2 of the CEFH criteria, and the patients were seriously undertreated and under-controlled. The screened FH prevalence varied by age, sex, geographical distributions, and urban/rural areas.
背景与目的
家族性高胆固醇血症（FH）是一种具有高动脉粥样硬化性心血管疾病负担的遗传性疾病。杂合子 FH 在欧洲的患病率目前为 0.2%-0.5%，而中国尚未公布一般人群的此类数据。我们旨在调查中国 35-75 岁人群 FH 的患病率和特征。
方法
我们使用了来自中国大陆 31 个省的全国性一般人群（n=1,059,936 人，年龄 35-75 岁），基于中国心脏事件评估和预防项目（China PEACE）百万人群项目（Million Persons Project）。FH 的诊断基于中国 FH 诊断专家共识（CEFH 标准）中的 2（未经治疗的 LDL-C≥4.7mmol/L 和一级亲属有早发 ASCVD 病史）项诊断标准。估计 FH 的患病率，并进一步分析临床表型特征。
结果
根据 CEFH 标准，FH 的总体患病率为 0.13%（95%置信区间 [CI]，0.12-0.14），年龄和性别标准化 FH 患病率略低（0.11%；95%CI，0.10-0.12）。女性 FH 的患病率是男性的两倍（0.16%比 0.08%，p<0.001）。在不同年龄组中，患病率也有所不同，在 55-64 岁年龄组中达到峰值。在地理区域方面，患病率从东部的 0.19%到中部的 0.11%，再到西部的 0.08%不等（p<0.001）。居住在农村地区的参与者患病率低于城市参与者（0.10%比 0.18%，p<0.001）。FH 患者的冠心病发生率是普通人群的 5 倍（10.5%比 2.1%，p<0.001）。接受降脂药物治疗的 FH 患者比例为 18.1%。没有接受治疗的患者达到了指南推荐的 LDL-C 目标。
结论
根据 CEFH 标准，中国 35-75 岁人群 FH 的患病率为 0.13%（约每 769 人中有 1 人），患者严重治疗不足和控制不佳。筛查出的 FH 患病率因年龄、性别、地理分布以及城乡地区而有所不同。
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