Emerging Treatments for Heterozygous and Homozygous Familial Hypercholesterolemia

Seth J. Baum, Daniel Soffer, Paul Duell

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder marked by extremely high low-density lipoprotein (LDL) cholesterol levels and concomitant premature vascular disease. FH is caused by mutations that most commonly affect three genes integrally involved in the LDL receptor's ability to clear LDL particles from the circulation. Primary intervention efforts to lower LDL cholesterol have centered on therapies that upregulate the LDL receptor. Unfortunately, most patients are insufficiently responsive to traditional LDL-lowering medications. This article focuses primarily on the clinical management of homozygous FH.

Original languageEnglish (US)
Pages (from-to)16-27
Number of pages12
JournalReviews in Cardiovascular Medicine
Volume17
Issue number1-2
StatePublished - Jan 1 2016

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Hyperlipoproteinemia Type II
LDL Receptors
LDL Lipoproteins
LDL Cholesterol
Vascular Diseases
HDL Cholesterol
Up-Regulation
Therapeutics
Mutation
Genes

ASJC Scopus subject areas

  • Medicine(all)
  • Cardiology and Cardiovascular Medicine

Cite this

Emerging Treatments for Heterozygous and Homozygous Familial Hypercholesterolemia. / Baum, Seth J.; Soffer, Daniel; Duell, Paul.

In: Reviews in Cardiovascular Medicine, Vol. 17, No. 1-2, 01.01.2016, p. 16-27.

Research output: Contribution to journalArticle

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