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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

2018-08-07Journal article Restricted access
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dc.contributor.authorSturm, Amy C.
dc.contributor.authorKnowles, Joshua W.
dc.contributor.authorGidding, Samuel S.
dc.contributor.authorAhmad, Zahid S.
dc.contributor.authorAhmed, Catherine D.
dc.contributor.authorBallantyne, Christie M.
dc.contributor.authorBaum, Seth J.
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorCarrié, Alain
dc.contributor.authorCuchel, Marina
dc.contributor.authorde Ferranti, Sarah D.
dc.contributor.authorDefesche, Joep C.
dc.contributor.authorFreiberger, Tomas
dc.contributor.authorHershberger, Ray E.
dc.contributor.authorHovingh, G. Kees
dc.contributor.authorKarayan, Lala
dc.contributor.authorKastelein, Johannes Jacob Pieter
dc.contributor.authorKindt, Iris
dc.contributor.authorLane, Stacey R.
dc.contributor.authorLeigh, Sarah E.
dc.contributor.authorLinton, MacRae F.
dc.contributor.authorMata, Pedro
dc.contributor.authorNeal, William A.
dc.contributor.authorNordestgaard, Børge G.
dc.contributor.authorSantos, Raul D.
dc.contributor.authorHarada-Shiba, Mariko
dc.contributor.authorSijbrands, Eric J.
dc.contributor.authorStitziel, Nathan O.
dc.contributor.authorYamashita, Shizuya
dc.contributor.authorWilemon, Katherine A.
dc.contributor.authorLedbetter, David H.
dc.contributor.authorRader, Daniel J.
dc.contributor.authorconvened by the Familial Hypercholesterolemia Foundation
dc.date.accessioned2018-09-06T14:28:28Z
dc.date.available2019-08-08T00:30:11Z
dc.date.issued2018-08-07
dc.description.abstractAlthough 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044pt_PT
dc.identifier.doi10.1016/j.jacc.2018.05.044pt_PT
dc.identifier.issn0735-1097
dc.identifier.urihttp://hdl.handle.net/10400.18/5603
dc.language.isoengpt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttp://www.onlinejacc.org/content/72/6/662pt_PT
dc.subjectCascade Testingpt_PT
dc.subjectConsensus Statementpt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectGenetic Counselingpt_PT
dc.subjectGenetic Testingpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleClinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panelpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage680pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage662pt_PT
oaire.citation.titleJournal of the American College of Cardiologypt_PT
oaire.citation.volume72pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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