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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.
Smith RJ, Hiatt WR. Two New Drugs for Homozygous Familial HypercholesterolemiaManaging Benefits and Risks in a Rare Disorder. JAMA Intern Med. 2013;173(16):1491-1492. doi:10.1001/jamainternmed.2013.6624