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Using percentiles to diagnose familial hypercholesterolemia in Portugal

2016-05Conference object Restricted access
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dc.contributor.authorPereira, A.
dc.contributor.authorAlves, A.C.
dc.contributor.authorMedeiros, A.M.
dc.contributor.authorMariano, Cibelle
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2016-06-21T15:10:43Z
dc.date.available2018-01-01T01:30:11Z
dc.date.issued2016-05
dc.description.abstractAims: Familial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism, clinically characterised by high levels of low-density lipoprotein cholesterol (LDL-C) that leads to cholesterol accumulation in tendons and arteries, premature atherosclerosis and increased risk of premature coronary heart disease. In 1999, the Portuguese FH Study was established at the National Institute of Health to identify the genetic cause of hypercholesterolemia in individuals with a clinical diagnosis of FH and to perform an epidemiologic study to determine the prevalence and distribution of FH in Portugal. In the last 16 years, a genetic defect was identified in 749 patients, representing 3. 7 % of the cases estimated to exist in Portugal. Index patients were included in this study using the Simon Broome (SB) criteria. However, there are different FH clinical criteria to diagnose index cases. Since there are no clinical criteria to identify relatives with FH, the aim of this work was to investigate if a diagnostic tool based on population specific 95 th percentile improves the clinical identification of Portuguese FH patients comparing with SB criteria.pt_PT
dc.description.sponsorshipProjects grants: Portuguese Cardiology Society [D13123], Science and Technology Foundation [project grant PIC/IC/83333/2007]; AM Medeiros was funded by BRJ-DPS/2012; Cibelle Mariano was funded by SFRH/BD/52494/2014pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/3844
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.relationClinical and molecular study of familial lipoprotein disorders with increase cardiovascular risk
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectPortugalpt_PT
dc.titleUsing percentiles to diagnose familial hypercholesterolemia in Portugalpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardTitleClinical and molecular study of familial lipoprotein disorders with increase cardiovascular risk
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5646-ICCMS/PIC%2FIC%2F83333%2F2007/PT
oaire.citation.conferencePlaceInnsbruck, Austriapt_PT
oaire.citation.title84th Congress of the European Atherosclerosis Society (EAS 2016), May 29-1June 2016pt_PT
oaire.fundingStream5646-ICCMS
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublicationf7c10f58-f6f9-46f9-9663-b24e59c81818
relation.isProjectOfPublication.latestForDiscoveryf7c10f58-f6f9-46f9-9663-b24e59c81818

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