Publication
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes
| dc.contributor.author | Mariano, C. | |
| dc.contributor.author | Medeiros, A.M. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Chora, J.R. | |
| dc.contributor.author | Futema, M. | |
| dc.contributor.author | Humphries, S.E. | |
| dc.contributor.author | Antunes, M. | |
| dc.contributor.author | Bourbon, M. | |
| dc.date.accessioned | 2019-03-20T16:34:26Z | |
| dc.date.available | 2019-03-20T16:34:26Z | |
| dc.date.issued | 2018-01 | |
| dc.description.abstract | Introduction: (i) Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide; (ii) Dyslipidaemia is an important but modifiable cardiovascular risk factor. For instance, Familial Hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk; (iii) FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6247 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.subject | Familial Hypercholesterolaemia | pt_PT |
| dc.subject | Cardiovascular Diseases | pt_PT |
| dc.subject | Dyslipidaemia | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.title | The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes | pt_PT |
| dc.type | lecture | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | Palestras do DPSPDNT, INSA, 26 janeiro 2018 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | lecture | pt_PT |