IMR Press / RCM / Volume 17 / Issue 1-2 / DOI: 10.3909/ricm0854
Open Access Review
Emerging Treatments for Heterozygous and Homozygous Familial Hypercholesterolemia
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1 Preventive Cardiology, Inc., Boca Raton, FL
2 University of Pennsylvania Health System, Philadelphia, PA
3 Oregon Health and Science University, Portland, OR
Rev. Cardiovasc. Med. 2016 , 17(1-2), 16–27;
Published: 30 March 2016
Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder marked by extremely high low-density lipoprotein (LDL) cholesterol levels and concomitant premature vascular disease. FH is caused by mutations that most commonly affect three genes integrally involved in the LDL receptor’s ability to clear LDL particles from the circulation. Primary intervention efforts to lower LDL cholesterol have centered on therapies that upregulate the LDL receptor. Unfortunately, most patients are insufficiently responsive to traditional LDL-lowering medications. This article focuses primarily on the clinical management of homozygous FH.
Familial hypercholesterolemia
Low-density lipoprotein cholesterol
Lipid-lowering therapy
LDL apheresis
PCSK9 inhibitors
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