Genetic considerations in the treatment of familial hypercholesterolemia

Ann Moyer, Linnea M. Baudhuin

Research output: Contribution to journalReview articlepeer-review

Abstract

Familial hypercholesterolemia is an inherited disease characterized by a markedly increased concentration of LDL-bound cholesterol and can lead to premature cardiovascular disease. Most cases are due to autosomal dominant mutations in LDLR, APOB or PCSK9. Although most patients receive high-dose statin therapy, many are still unable to achieve desired lipid levels. For these patients, additional therapies, including LDL-apheresis are considered. Recently, there has been progress in the treatment of familial hypercholesterolemia with the development of PCSK9 inhibitors, a microsomal triglyceride transport protein inhibitor, and an antisense oligonucleotide against APOB. Addition of these new therapeutics to those in existence is likely to decrease morbidity and mortality associated with familial hypercholesterolemia.

Original languageEnglish (US)
Pages (from-to)387-403
Number of pages17
JournalClinical Lipidology
Volume10
Issue number5
DOIs
StatePublished - 2015

Keywords

  • APOB
  • familial hypercholesterolemia
  • LDL
  • LDL apheresis
  • LDLR
  • LDLRAP1
  • lomitapide
  • mipomersen
  • PCSK9

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Endocrinology, Diabetes and Metabolism

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