Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million Subjects

• Published in: Journal of the American College of Cardiology Vol. 75; no. 20; p. 2553
• Main Authors: Beheshti, Sabina O, Madsen, Christian M, Varbo, Anette, Nordestgaard, Børge G
• Format: Journal Article
• Language: English
• Published: United States 26.05.2020
• Subjects: Ethnic Groups; Global Health; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II - epidemiology; Hyperlipoproteinemia Type II - ethnology; Hyperlipoproteinemia Type II - genetics; Lipoproteins, LDL - blood; Myocardial Ischemia - epidemiology; Myocardial Ischemia - ethnology; Myocardial Ischemia - genetics; Prevalence; epidemiology; premature; severe hypercholesterolemia; systematic review; myocardial infarction; frequency
• ISSN: 1558-3597; 1558-3597
• DOI: 10.1016/j.jacc.2020.03.057

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. 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. 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. 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. 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.