Genetics of Familial Hypercholesterolemia

Overview

Journal Curr Atheroscler Rep

Publisher Springer

Specialty Cardiology & Vascular Diseases

Date 2015 Feb 26

PMID 25712136

Citations 31

Authors

Ariel Brautbar

Emili Leary

Kristen Rasmussen

Don P Wilson

Robert D Steiner

Salim Virani

Affiliations

Soon will be listed here.

Abstract

Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a prevalence of approximately 1 in 200-500 for heterozygotes in North America and Europe. Monogenic FH is largely attributed to mutations in the LDLR, APOB, and PCSK9 genes. Differential diagnosis is critical to distinguish FH from conditions with phenotypically similar presentations to ensure appropriate therapeutic management and genetic counseling. Accurate diagnosis requires careful phenotyping based on clinical and biochemical presentation, validated by genetic testing. Recent investigations to discover additional genetic loci associated with extreme hypercholesterolemia using known FH families and population studies have met with limited success. Here, we provide a brief overview of the genetic determinants, differential diagnosis, genetic testing, and counseling of FH genetics.

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