Mariano, C.Medeiros, A.M.Alves, A.C.Chora, J.R.Futema, M.Humphries, S.E.Antunes, M.Bourbon, M.2019-03-202019-03-202018-01http://hdl.handle.net/10400.18/6247Introduction: (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.engFamilial HypercholesterolaemiaCardiovascular DiseasesDyslipidaemiaDoenças Cardio e Cérebro-vasculareslecture