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

ObjectivesHeterozygous 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 v...

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Bibliographic Details
Published in:BMJ open 2017-09, Vol.7 (9), p.e016461-e016461
Main Authors: Akioyamen, Leo E, Genest, Jacques, Shan, Shubham D, Reel, Rachel L, Albaum, Jordan M, Chu, Anna, Tu, Jack V
Format: Article
Language:English
Subjects:
Adult
Atherosclerosis
Cardiovascular disease
Cardiovascular Medicine
Child
Epidemiology
Estimates
Evidence-based medicine
Female
Heart
Humans
Hypercholesterolemia - epidemiology
Hyperlipoproteinemia Type II - epidemiology
Lipids
Male
Meta-analysis
Mutation
Population
Prevalence
Public health
Sociodemographics
Systematic review
Teenagers
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Summary:ObjectivesHeterozygous 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.Setting, participants and outcome measuresWe 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.ResultsThe 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.ConclusionsOur 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.
ISSN:2044-6055
2044-6055
DOI:10.1136/bmjopen-2017-016461