全球家族性高胆固醇血症患病率的Meta 分析：1100 万例患者研究
Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million Subjects.
机构信息
Department of Clinical Biochemistry and the Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Department of Clinical Biochemistry and the Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
出版信息
J Am Coll Cardiol. 2020 May 26;75(20):2553-2566. doi: 10.1016/j.jacc.2020.03.057.
BACKGROUND
Despite the greater prevalence of familial hypercholesterolemia (FH) in subjects with ischemic heart disease (IHD), premature IHD, and severe hypercholesterolemia (low-density lipoprotein ≥190 mg/dl), overall prevalence estimates are not available.
OBJECTIVES
The aim of this study was to provide worldwide estimates of FH prevalence in subjects with IHD, premature IHD, and severe hypercholesterolemia compared with those in the general population.
METHODS
In this systematic review and meta-analyses, Embase, PubMed, and the Web of Science were searched until June 3, 2019, for peer-reviewed papers and conference abstracts reporting heterozygous FH prevalence in nonfounder populations, revealing 104 studies eligible for inclusion.
RESULTS
Estimates of FH prevalence were pooled using random-effects meta-analyses and were 0.32% (95% confidence interval [CI]: 0.26% to 0.39% [corresponding to 1:313]) among 10,921,310 unique subjects in the general population (33,036 patients with FH) on the basis of 44 studies, 3.2% (95% CI: 2.2% to 4.3% [1:31]) among 84,479 unique subjects with IHD (2,103 patients with FH) on the basis of 28 studies, 6.7% (95% CI: 4.9% to 8.7% [1:15]) among 31,316 unique subjects with premature IHD (1,471 patients with FH) on the basis of 32 studies, and 7.2% (95% CI: 4.6% to 10.8% [1:14]) among 17,728 unique subjects with severe hypercholesterolemia (920 patients with FH) on the basis of 7 studies. FH prevalence in the general population was similar using genetic versus clinical diagnoses. Seventeen of 195 countries (9%) in the world have reported FH prevalence for the general population, leaving 178 (91%) countries in the world with unknown prevalence.
CONCLUSIONS
Compared with 1:313 among subjects in the general population, FH prevalence is 10-fold higher among those with IHD, 20-fold higher among those with premature IHD, and 23-fold higher among those with severe hypercholesterolemia. The prevalence of FH is unknown in 90% of countries in the world.
背景
尽管家族性高胆固醇血症（FH）在缺血性心脏病（IHD）、早发性 IHD 和严重高胆固醇血症（低密度脂蛋白≥190mg/dl）患者中的患病率更高，但总体患病率估计值尚不清楚。
目的
本研究旨在提供全球范围内 IHD、早发性 IHD 和严重高胆固醇血症患者中 FH 患病率的估计值，并与一般人群进行比较。
方法
在本系统评价和荟萃分析中，检索了 Embase、PubMed 和 Web of Science，以获取截至 2019 年 6 月 3 日报告非创始人群中杂合子 FH 患病率的同行评议论文和会议摘要，共有 104 项研究符合纳入标准。
结果
使用随机效应荟萃分析汇总 FH 患病率估计值，在一般人群（33,036 例 FH 患者）中，基于 44 项研究的 10,921,310 例独特个体中为 0.32%（95%置信区间：0.26%至 0.39%[相应的 1:313]）；在 IHD 患者（2,103 例 FH 患者）中，基于 28 项研究的 84,479 例独特个体中为 3.2%（95%置信区间：2.2%至 4.3%[1:31]）；在早发性 IHD 患者（1,471 例 FH 患者）中，基于 32 项研究的 31,316 例独特个体中为 6.7%（95%置信区间：4.9%至 8.7%[1:15]）；在严重高胆固醇血症患者（920 例 FH 患者）中，基于 7 项研究的 17,728 例独特个体中为 7.2%（95%置信区间：4.6%至 10.8%[1:14]）。使用遗传诊断与临床诊断，一般人群中 FH 的患病率相似。在世界 195 个国家（9%）中，有 17 个国家报告了一般人群的 FH 患病率，而世界上还有 178 个国家（91%）的 FH 患病率尚不清楚。
结论
与一般人群中的 1:313 相比，IHD 患者的 FH 患病率高 10 倍，早发性 IHD 患者的 FH 患病率高 20 倍，严重高胆固醇血症患者的 FH 患病率高 23 倍。世界上 90%的国家 FH 患病率未知。
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