JAMA Internal Medicine: Genetic Disorders Topic Collection http://archinte.jamanetwork.com/ en-us Mon, 06 May 2013 00:00:00 GMT Mon, 06 May 2013 22:48:58 GMT Silverchair editor@archinte.jamanetwork.com webmaster@archinte.jamanetwork.com Two New Drugs for Homozygous Familial Hypercholesterolemia Managing Benefits and Risks in a Rare Disorder Drugs for Homozygous Familial Hypercholesterolemia http://archinte.jamanetwork.com/article.aspx?articleID=1685891 Mon, 06 May 2013 00:00:00 GMT Smith RJ, Hiatt WR. <span class="paragraphSection">Homozygous familial hypercholesterolemia (HoFH) has the highest cardiovascular risk of any known atherosclerotic disease, with severe and progressive cardiovascular events frequently presenting in childhood. 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.</span> 1 3 10.1001/jamainternmed.2013.6624 http://archinte.jamanetwork.com/article.aspx?articleID=1685891