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Cardiovascular risk and pharmacogenetics of statins in Familial Hypercholesterolaemia

dc.contributor.authorChora, Joana
dc.date.accessioned2022-10-31T12:06:35Z
dc.date.available2022-10-31T12:06:35Z
dc.date.issued2021-04-30
dc.description.abstractFamilial hypercholesterolemia is a cardiovascular disease risk condition since its characterized by elevated lipid values since childhood. In this work we stratified CVD risk in a sample of FH patients and the general population and analysed both cohorts in terms of lipid lowering therapy used and attainment of lipid therapeutic target levels. We saw that while the general population has moderate to high CVD risk, FH patients have high to very high CVD risk. Lipid target levels are not being met and the higher risk groups are the worst controlled. Additionally we studied the association between the genotype of specific statin pharmacogenetic relevant SNPs and lipid values after statin treatment and found that APOE rs7412 is associated with higher LDL values after statin treatment and failure to achieve target lipid levels. Predicting the effect of lipid lowering drugs based on the individual’s genetic background allows for appropriate therapeutic strategies, optimizing therapeutic benefits and minimizing toxicity risk in the individual patient.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8276
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectCardiovascular Disease Riskpt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleCardiovascular risk and pharmacogenetics of statins in Familial Hypercholesterolaemiapt_PT
dc.typelecture
dspace.entity.typePublication
oaire.citation.conferencePlace(online)pt_PT
oaire.citation.titlePalestras do DPSPDNT, INSA, 30 abril 2021pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typelecturept_PT

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