Compared with 0.32% in the general population, familial hypercholesterolemia prevalence was 3.2% in ischemic heart disease, 6.7% in premature IHD, and 7.2% in severe hypercholesterolemia.
Meta-Analysis (n=11,054,833)
Yes
Systematic review and meta-analysis of 104 studies including over 11 million subjects to estimate the worldwide prevalence of familial hypercholesterolemia in the general population and high-risk groups.
Worldwide estimates of familial hypercholesterolemia (FH) prevalence
Familial hypercholesterolemia is 10- to 23-fold more prevalent in patients with ischemic heart disease or severe hypercholesterolemia compared to the general population (1:313), highlighting the need for targeted screening.
Absolute Event Rate: 3.2% vs 0.32%
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.
“For the first time, we have been able to show the true scale of FH in terms of its global prevalence and how well it is being managed. Many healthy people may be living their lives unaware they have an underlying genetic condition which puts them at significantly higher risk of heart attacks and cardiovascular disease, independent of their lifestyle factors.”
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Sabina Beheshti
University of Copenhagen
Christian M. Madsen
Novo Nordisk (Denmark)
Anette Varbo
Preventive Cardiology
Journal of the American College of Cardiology
University of Copenhagen
Copenhagen University Hospital
Gentofte Hospital
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Beheshti et al. (Fri,) conducted a meta-analysis in Familial hypercholesterolemia (n=11,054,833). Ischemic heart disease vs. General population was evaluated on Prevalence of familial hypercholesterolemia. Compared with 0.32% in the general population, familial hypercholesterolemia prevalence was 3.2% in ischemic heart disease, 6.7% in premature IHD, and 7.2% in severe hypercholesterolemia.
synapsesocial.com/papers/6a2391a96a2ea72b41a620c8 — DOI: https://doi.org/10.1016/j.jacc.2020.03.057