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Homozygous autosomal dominant hypercholesterolaemia

17 Apr 2015

Abstract excerpt

PURPOSE OF REVIEW: Homozygous autosomal dominant hypercholesterolemia (hoADH) is a rare genetic disorder caused by mutations in LDL receptor, apolipoprotein B, and/or proprotein convertase subtilisin-kexin type 9. Both the genetic mutations and the clinical phenotype vary largely among individual patients, but patients with hoADH are typically characterized by extremely elevated LDL-cholesterol (LDL-C) levels,...

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PMID: 25950706
DOI: 10.1097/mol.0000000000000179

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