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Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

2023-03-02Journal article Open access
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dc.contributor.authorMedeiros, Ana Margarida
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2024-02-12T11:51:39Z
dc.date.available2024-02-12T11:51:39Z
dc.date.issued2023-03-02
dc.descriptionReview
dc.description.abstractPurpose of Review: Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile is widely accessible, and genetic testing, although available worldwide, in some countries is only performed in a research context. Still FH is diagnosed late, showing lack of early screening programs worldwide. Recent Findings: Pediatric screening of FH was recently recognized by the European Commission Public Health Best Practice Portal as one on the best practices in non-communicable disease prevention. The early diagnosis of FH and the lowering of LDL-C values over lifespan can reduce the risk of coronary artery disease and offer health and socioeconomic gains. Summary: Current knowledge about FH shows that early detection through appropriate screening needs to become a priority in healthcare systems worldwide. Governmental programs for FH identification should be implemented to unify the diagnosis and increase patient identification.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCurr Atheroscler Rep. 2023 Apr;25(4):127-132. doi: 10.1007/s11883-023-01091-5. Epub 2023 Mar 2. Reviewpt_PT
dc.identifier.doi10.1007/s11883-023-01091-5pt_PT
dc.identifier.issn1534-6242
dc.identifier.urihttp://hdl.handle.net/10400.18/9080
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007/s11883-023-01091-5pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectFamilial hypercholesterolemiapt_PT
dc.subjectFHpt_PT
dc.subjectDyslipidemiapt_PT
dc.subjectLDLRpt_PT
dc.subjectFH Screeningpt_PT
dc.subjectHigh Cholesterolpt_PT
dc.subjectHipercolesterolemia Familiarpt_PT
dc.subjectColesterolpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleGenetic Testing in Familial Hypercholesterolemia: Is It for Everyone?pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage132pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage127pt_PT
oaire.citation.titleCurrent Atherosclerosis Reportspt_PT
oaire.citation.volume25pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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