Table 3.

Prevalence of Familial Hypercholesterolemia in Select Populations

PopulationPrevalence 1
General population~1:250
French Canadian1:80 2, 3
Old Order Amish1:10 4
Christian Lebanese1:85
Tunisia1:165
South African Afrikaner1:72 to 1:100
South African Ashkenazi Jew1:67
Icelandic1:836 3
1.
2.

A common >10-kb LDLR deletion that includes exon 1 (60% of alleles) and a ~5-kb LDLR deletion (5% of alleles) result in a significant increase in LDL-C [Simard et al 2004].

3.
4.

Amish individuals heterozygous for APOB variant p.Arg3527Gln (the most common pathogenic variant in the Amish community) have average LDL-C levels below the suggested minimum for a diagnosis of FH. However, coronary artery calcification and atherosclerosis still occur in heterozygous Amish individuals with lower average LDL-C levels [Andersen et al 2016].

From: Familial Hypercholesterolemia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.