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Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia

2014-03Journal article Restricted access
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dc.contributor.authorMedeiros, A.M.
dc.contributor.authorAlves, A.C.
dc.contributor.authorAguiar, P
dc.contributor.authorBourbon, M.
dc.contributor.authoron behalf of the Pediatric Investigators of the Portuguese Familial Hypercholesterolemia Study
dc.date.accessioned2014-12-02T17:36:30Z
dc.date.available2014-12-02T17:36:30Z
dc.date.issued2014-03
dc.description.abstractThe distinction between a monogenic dyslipidemia and a polygenic/environmental dyslipidemia is important for the cardiovascular risk assessment, counseling, and treatment of these patients. The present work aims to perform the cardiovascular risk assessment of dyslipidemic children to identify useful biomarkers for clinical criteria improvement in clinical settings. Main cardiovascular risk factors were analyzed in a cohort of 237 unrelated children with clinical diagnosis of familial hypercholesterolemia (FH). About 40% carried at least two cardiovascular risk factors and 37.6% had FH, presenting mutations in LDLR and APOB. FH children showed significant elevated atherogenic markers and lower concentration of antiatherogenic particles. Children without a molecular diagnosis of FH had higher levels of TGs, apoC2, apoC3, and higher frequency of BMI and overweight/obesity, suggesting that environmental factors can be the underlying cause of their hypercholesterolem≥ia. An apoB/apoA1 ratio ≥0.68 was identified as the best biomarker (area under the curve = 0.835) to differentiate FH from other dyslipidemias. The inclusion in clinical criteria of a higher cut-off point for LDL cholesterol or an apoB/apoA1 ratio ≥0.68 optimized the criteria sensitivity and specificity. The correct identification, at an early age, of all children at-risk is of great importance so that specific interventions can be implemented. apoB/apoA1 can improve the identification of FH patients.por
dc.description.sponsorshipThis work was supported by the Portuguese Cardiology Society (D13123) and the Science and Technology Foundation (project grant PIC/IC/83333/2007; strategic project grant PEst-OE/BIA/UI4046/2011; ACA PhD grant SFRH/ BD/27990/2006).por
dc.identifier.citationJ Lipid Res. 2014 May;55(5):947-55. doi: 10.1194/jlr.P043182. Epub 2014 Mar 13.por
dc.identifier.doi10.1194/jlr.P043182
dc.identifier.issn0022-2275
dc.identifier.urihttp://hdl.handle.net/10400.18/2485
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherAmerican Society for Biochemistry and Molecular Biologypor
dc.relation.publisherversionhttp://www.jlr.org/content/55/5/947.longpor
dc.subjectCardiovascular Risk Factorpor
dc.subjectClinical Criteriapor
dc.subjectFamilial Hypercholesterolemiapor
dc.subjectDoenças Cardio e Cérebro-vascularespor
dc.titleCardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemiapor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage955por
oaire.citation.startPage947por
oaire.citation.titleJournal of Lipid Researchpor
oaire.citation.volume55(5)por
rcaap.rightsembargoedAccesspor
rcaap.typearticlepor

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