Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.

Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.
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DOI:
10.1136/bmjopen-2017-016461
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发表时间:
2017-09-01
期刊:
影响因子:
2.9
通讯作者:
Tu JV
Tu JV
中科院分区:
医学3区
文献类型:
--
作者:
Akioyamen LE;Genest J;Shan SD;Reel RL;Albaum JM;Chu A;Tu JV

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杂合子家族性高胆固醇血症(FH)会带来过早心血管疾病(CVD)的显着风险。然而,不同研究对 FH 患病率的估计差异很大。我们的目的是提供一般人群中 FH 患病率的汇总估计,并评估不同社会人口特征的频率变化。我们使用经过验证的策略检索了 MEDLINE、EMBASE、Global Health、Cochrane Library、PsycINFO 和 PubMed 来查找同行评审的文献。结果仅限于 1990 年 1 月至 2017 年 1 月期间以英文发表的研究。如果研究使用临床标准或基于 DNA 的分析确定 FH 患病率,则研究合格。我们确定了成人和儿童 FH 的汇总点患病率,并评估了按年龄、性别、地理位置、诊断方法、研究质量和发表年份划分的汇总频率的变化。使用随机效应荟萃分析汇总估计值。通过亚组、荟萃回归和敏感性分析来调查研究水平特征的差异。 19 项研究(包括 2 458 456 名独特个体)的 FH 汇总患病率为 0.40%(95% CI 0.29% 至 0.52%),相当于每 250 名个体中就有 1 人患有 FH。研究发现 FH 患病率因年龄和地理位置而异,但不因任何其他协变量而异。敏感性分析结果一致。我们的系统评价表明 FH 是一种常见疾病,每 250 人中就有 1 人受到影响。这些发现强调需要早期检测和管理以降低 CVD 风险。
Heterozygous familial hypercholesterolaemia (FH) confers a significant risk for premature cardiovascular disease (CVD). However, the estimated prevalence of FH varies substantially among studies. We aimed to provide a summary estimate of FH prevalence in the general population and assess variations in frequency across different sociodemographic characteristics. We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, PsycINFO and PubMed for peer-reviewed literature using validated strategies. Results were limited to studies published in English between January 1990 and January 2017. Studies were eligible if they determined FH prevalence using clinical criteria or DNA-based analyses. We determined a pooled point prevalence of FH in adults and children and assessed the variation of the pooled frequency by age, sex, geographical location, diagnostic method, study quality and year of publication. Estimates were pooled using random-effects meta-analysis. Differences by study-level characteristics were investigated through subgroups, meta-regression and sensitivity analyses. The pooled prevalence of FH from 19 studies including 2 458 456 unique individuals was 0.40% (95% CI 0.29% to 0.52%) which corresponds to a frequency of 1 in 250 individuals. FH prevalence was found to vary by age and geographical location but not by any other covariates. Results were consistent in sensitivity analyses. Our systematic review suggests that FH is a common disorder, affecting 1 in 250 individuals. These findings underscore the need for early detection and management to decrease CVD risk.
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