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Article

Phenotype diversity among patients with homozygous familial hypercholesterolemia: A cohort study.

Atherosclerosis - 1 May 2016

Raal Frederick J, Sjouke Barbara, Hovingh G Kees, Isaac Barton F

Abstract excerpt

AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare disorder usually caused by mutations in both alleles of the low-density lipoprotein receptor gene (LDLR). Premature death, often before the age of 20 years, was a common fate for patients with HoFH prior to the introduction of statins in 1990 and the use of lipoprotein apheresis. Consequently, HoFH has been widely considered a condition exclusive to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27017151
DOI: 10.1016/j.atherosclerosis.2016.03.009

Genes

LDLR

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