JAMA Network | JAMA Internal Medicine | Two New Drugs for Homozygous Familial Hypercholesterolemia: Managing Benefits and Risks in a Rare Disorder

JAMA Network | JAMA Internal Medicine | Two New Drugs for Homozygous Familial Hypercholesterolemia:  Managing Benefits and Risks in a Rare Disorder

Two New Drugs for Homozygous Familial HypercholesterolemiaManaging Benefits and Risks in a Rare Disorder

Robert J. Smith, MD^1,2; William R. Hiatt, MD^3,4

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JAMA Intern Med. 2013;173(16):1491-1492. doi:10.1001/jamainternmed.2013.6624.

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Homozygous familial hypercholesterolemia (HoFH) has the highest cardiovascular risk of any known atherosclerotic disease, with severe and progressive cardiovascular events frequently presenting in childhood.¹ Affected individuals have either the same mutation in both low-density lipoprotein (LDL) receptor alleles (true homozygotes) or distinct loss-of-function mutations in each LDL receptor allele (technically compound heterozygotes). The pathophysiologic mechanism is strongly related to increased LDL cholesterol (LDL-C) levels and LDL receptor status.