Genetics of familial hypercholesterolemia
Document Type
Article
Department
Cardiology
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.
Publication (Name of Journal)
Current Atherosclerosis Reports
Recommended Citation
Brautbar, A.,
Leary, E.,
Rasmussen, K.,
Wilson, D. P.,
Steiner, R. D.,
Virani, S. S.
(2015). Genetics of familial hypercholesterolemia. Current Atherosclerosis Reports, 17(4), 491.
Available at:
https://ecommons.aku.edu/provost_office/170
Comments
Pagination are not provided by the author/publisher. This work was published before the author joined Aga Khan University.