Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2015 May;33(2):169-79.
doi: 10.1016/j.ccl.2015.01.001.

Familial hypercholesterolemia

Affiliations
Review

Familial hypercholesterolemia

Victoria Enchia Bouhairie et al. Cardiol Clin. 2015 May.

Abstract

Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen, and low-density lipoprotein (LDL) apheresis are treatments that can lower LDL cholesterol levels. Early treatment can lead to substantial reduction of cardiovascular events and death in patients with familial hypercholesterolemia. It is important to increase awareness of this disorder in physicians and patients to reduce the burden of this disorder.

Keywords: Bile acid sequestrants; Ezetimibe; Familial hypercholesterolemia; LDL apheresis; Lomitapide; Mipomersen; Statins.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest Statement: Victoria Bouhairie, MD: none

Republished in

  • Familial Hypercholesterolemia.
    Bouhairie VE, Goldberg AC. Bouhairie VE, et al. Endocrinol Metab Clin North Am. 2016 Mar;45(1):1-16. doi: 10.1016/j.ecl.2015.09.001. Endocrinol Metab Clin North Am. 2016. PMID: 26892994 Review.

References

    1. Hopkins P, Toth P. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011 Jun;5(3 Suppl):S9–17. - PubMed
    1. Nordestgaard B, Chapman M, Humphries S. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J. 2013;34(45):3478–90a. - PMC - PubMed
    1. Cuchel M, Bruckert E, Ginsberg H. Homozygous Familial Hypercholesterolaemia: New Insights and Guidance for Clinicians to Improve Detection and Clinical Management. Eur Heart J. 2014;35(32):2146–2157. - PMC - PubMed
    1. Robinson JG, Goldberg AC. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.; National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011 Jun;5(3 Suppl):S18–29. - PubMed
    1. Langer T, Strober W, Levy RI. The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia. J Clin Invest. 1972 Jun;51(6):1528–3. - PMC - PubMed

Publication types

MeSH terms