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Cascade Screening for Familial Hypercholesterolemia (FH)

By Renée M. Ned and Eric. J.G. Sijbrands

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by abnormally high concentrations of low-density lipoprotein (LDL) cholesterol in the blood, which predisposes affected persons to premature coronary heart disease (CHD) and death. FH is one of the most common inherited disorders and the most common one known to cause premature CHD in people of European descent. The vast majority of people with FH have inherited a single mutation from one parent in either the LDL receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Despite their greatly elevated risk of coronary heart disease, most individuals with FH remain undiagnosed, untreated, or inadequately treated

Topics: Evidence on Genomic Tests
Publisher: Public Library of Science
OAI identifier: oai:pubmedcentral.nih.gov:3102597
Provided by: PubMed Central
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