Portuguese experience on cascade screening of index patients with FH

• Author(s): Medeiros, A.M. ; Alves, A.C. ; Leitão, F. ; Bourbon, M.
• Date: 2012
• Persistent ID: http://hdl.handle.net/10400.18/902
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Cardio e Cérebro-vasculares
• Document Type: Conference Object
• Language: English

Description

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.