{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:58:14Z","timestamp":1792803494852,"version":"4.5.0"},"reference-count":75,"publisher":"BMJ","issue":"9","funder":[{"name":"Institute for Circulatory Health-Canadian Institutes of Health Research Chronic Diseases Team Grant"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2017,7,5]]},"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting, participants and outcome measures<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2017-016461","type":"journal-article","created":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T20:10:27Z","timestamp":1504296627000},"page":"e016461","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":315,"title":["Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis"],"prefix":"10.1136","volume":"7","author":[{"given":"Leo E","family":"Akioyamen","sequence":"first","affiliation":[{"name":"Faculty of Medicine, University of Toronto, Toronto, Canada"},{"name":"Institute for Clinical Evaluative Sciences, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Genest","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, McGill University, Montreal, Canada"},{"name":"MGill University Health Centre, Royal Victoria Hospital, Montreal, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubham D","family":"Shan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Toronto, Toronto, Canada"},{"name":"Institute for Clinical Evaluative Sciences, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel L","family":"Reel","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Toronto, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan M","family":"Albaum","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Toronto, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Chu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Toronto, Toronto, Canada"},{"name":"Institute for Clinical Evaluative Sciences, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack V","family":"Tu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Toronto, Toronto, Canada"},{"name":"Institute for Clinical Evaluative Sciences, Toronto, Canada"},{"name":"Schulich Heart Centre, Sunnybrook Health Sciences Centre, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,9,1]]},"reference":[{"key":"2025121514230303000_7.9.e016461.1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107332"},{"key":"2025121514230303000_7.9.e016461.2","first-page":"35","article-title":"Inheritance of familial hypercholesterolemia","volume":"5","author":"Slack","year":"1979","journal-title":"Atheroscler Rev"},{"key":"2025121514230303000_7.9.e016461.3","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1111\/j.1399-0004.1976.tb01569.x","article-title":"The inheritance of hyperlipoproteinaemia with xanthomatosis:a study of 132 kindreds","volume":"9","author":"Heiberg","year":"1976","journal-title":"Clin Genet"},{"key":"2025121514230303000_7.9.e016461.4","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1111\/j.1651-2227.1979.tb05052.x","article-title":"Screening for hyperlipoproteinemia in 10,000 danish newborns. 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