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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel
AC. Sturm, JW. Knowles, SS. Gidding, ZS. Ahmad, CD. Ahmed, CM. Ballantyne, SJ. Baum, M. Bourbon, A. Carrié, M. Cuchel, SD. de Ferranti, JC. Defesche, T. Freiberger, RE. Hershberger, GK. Hovingh, L. Karayan, JJP. Kastelein, I. Kindt, SR. Lane, SE....
Language English Country United States
Document type Journal Article, Review
Grant support
NV16-29084A
MZ0
CEP Register
Digital library NLK
Full text - Article
NLK
Free Medical Journals
from 1983 to 1 year ago
Open Access Digital Library
from 1998-01-01
- MeSH
- Apolipoproteins B blood genetics MeSH
- Genetic Counseling methods standards MeSH
- Genetic Testing methods standards MeSH
- Hyperlipoproteinemia Type II blood diagnosis genetics MeSH
- Receptors, LDL blood genetics MeSH
- Humans MeSH
- Proprotein Convertase 9 blood genetics MeSH
- Expert Testimony methods standards MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
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.
Bioinformatics Genomics England Queen Mary University of London London United Kingdom
Central European Institute of Technology Masaryk University Brno Czech Republic
Centre for Cardiovascular Surgery and Transplantation Brno Czech Republic
Department of Cardiology Boston Children's Hospital and Harvard Medical School Boston Massachusetts
Department of Cardiovascular Medicine Rinku General Medical Center Osaka Japan
Department of Internal Medicine Erasmus Medical Center Rotterdam the Netherlands
Department of Internal Medicine University of Texas Southwestern Medical Center Dallas Texas
Department of Internal Medicine Wexner Medical Center at The Ohio State University Columbus Ohio
Department of Medicine Baylor College of Medicine Houston Texas
Department of Pediatrics West Virginia University Morgantown West Virginia
Department of Vascular Medicine Academic Medical Center Amsterdam the Netherlands
Fundación Hipercolesterolemia Familiar Madrid Spain
Genomic Medicine Institute Geisinger Danville Pennsylvania
Medicine and Pharmacology Vanderbilt University School of Medicine Nashville Tennessee
Nemours Cardiac Center A 1 DuPont Hospital for Children Wilmington Delaware
The Familial Hypercholesterolemia Foundation Pasadena California
References provided by Crossref.org
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