Portuguese experience on cascade screening of index patients with FH

Medeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.

http://hdl.handle.net/10400.18/902

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Abstract(s)

Familial 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.