Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

Convened by the Familial Hypercholesterolemia Foundation

Research output: Contribution to journalReview article

50 Citations (Scopus)

Abstract

Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.

Original languageEnglish (US)
Pages (from-to)662-680
Number of pages19
JournalJournal of the American College of Cardiology
Volume72
Issue number6
DOIs
StatePublished - Aug 7 2018

Fingerprint

Hyperlipoproteinemia Type II
Genetic Testing
Proprotein Convertases
Subtilisin
Inborn Genetic Diseases
LDL Receptors
Apolipoproteins B
Standard of Care
Genes
Phenotype
Lipids
Therapeutics

Keywords

  • cascade testing
  • consensus statement
  • familial hypercholesterolemia
  • genetic counseling
  • genetic testing

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Clinical Genetic Testing for Familial Hypercholesterolemia : JACC Scientific Expert Panel. / Convened by the Familial Hypercholesterolemia Foundation.

In: Journal of the American College of Cardiology, Vol. 72, No. 6, 07.08.2018, p. 662-680.

Research output: Contribution to journalReview article

Convened by the Familial Hypercholesterolemia Foundation. / Clinical Genetic Testing for Familial Hypercholesterolemia : JACC Scientific Expert Panel. In: Journal of the American College of Cardiology. 2018 ; Vol. 72, No. 6. pp. 662-680.
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abstract = "Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.",
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