Medeiros, A.M.Alves, A.C.Bourbon, M.2021-11-112021-11-112021-05http://hdl.handle.net/10400.18/7810Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide). Clinically these patients present with high levels of cholesterol since birth, family history of hypercholesterolemia and premature cardiovascular disease. Formal genetic diagnosis includes the study of 3 genes: LDLR, APOB, PCSK9. Recently, other 5 genes have been associated with the FH phenotype (LDLRAP1, APOE, LIPA, ABCG5/8) since pathogenic variants have been identified in clinical FH patients.engFamilial HypercholesterolemiaCholesterolDoenças Cardio e Cérebro-vascularesColesterolconference object