Mariano, C.Antunes, M.Medeiros, A.M.Alves, A.C.Futema, M.Humphries, S.E.Bourbon, Mafalda2018-03-052018-03-052017-10http://hdl.handle.net/10400.18/5171Familial hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk. 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. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency or can have a polygenic origin. The aim of this work was to characterize the origin of FH phenotype in a cohort of patients with a clinical diagnosis of FH.engFamilial HypercholesterolaemiaCardiovascular RiskDoenças Cardio e Cérebro-vascularesconference object