Medeiros, A.M.Alves, A.C.Bourbon, M.2021-04-302021-04-302020-11http://hdl.handle.net/10400.18/7717Introduction: Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide); FH patients have high levels of cholesterol since birth with a family history of hypercholesterolemia and premature cardiovascular disease; Genetic diagnosis results from the study of 3 genes: LDLR, APOB, PCSK9; Recently, 5 genes have been associated with FH phenotype (LDLRAP1, APOE, LIPA, ABCG5/8) since pathogenic variants in those genes have been identified in clinical FH patients.engPortuguese FH StudyFamilial HypercholesterolemiaPortugalDoenças Cardio e Cérebro-vascularesconference object