Repositório Científico do Instituto Nacional de Saúde >
Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis >
DPSPDNT - Posters/abstracts em congressos internacionais >
Please use this identifier to cite or link to this item:
|Title: ||The impact of cascade screening in familial hypercholesterolemia diagnosis|
|Authors: ||Gomes, A.|
|Keywords: ||Doenças Cardio e Cérebro-vasculares|
|Issue Date: ||Jun-2012|
|Publisher: ||Instituto Nacional de Saúde Doutor Ricardo Jorge, IP|
|Abstract: ||Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes. It’s characterized by an increase of total and LDL cholesterol levels leading to premature cardiovascular disease. According to the frequency of the disease in most European countries (1:500 individuals) it is estimated that in Portugal exists about 20.000 cases of FH, but this disease is severe under-diagnosed in our country.
Cascade screening (CS) is as method for identifying individuals at risk of a genetic condition by a process of family tracing through molecular studies, allowing the rapid identification of new FH cases within a family.|
|Appears in Collections:||DPSPDNT - Posters/abstracts em congressos internacionais|
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.