Medeiros, A.M.Alves, A.C.Leitão, F.Bourbon, M.2012-07-102012-07-102012-05http://hdl.handle.net/10400.18/902Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes. FH has a estimated frequency of 1:500 in most European countries. Based on this frequency Portugal should have about 20000 cases of FH, however in our country this disorder is under-diagnosed.engDoenças Cardio e Cérebro-vascularesconference object