Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/5171
Título: The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes
Autor: Mariano, C.
Antunes, M.
Medeiros, A.M.
Alves, A.C.
Futema, M.
Humphries, S.E.
Bourbon, Mafalda
Palavras-chave: Familial Hypercholesterolaemia
Cardiovascular Risk
Doenças Cardio e Cérebro-vasculares
Data: Out-2017
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: Familial hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk. FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency or can have a polygenic origin. The aim of this work was to characterize the origin of FH phenotype in a cohort of patients with a clinical diagnosis of FH.
URI: http://hdl.handle.net/10400.18/5171
Aparece nas colecções:DPSPDNT - Posters/abstracts em congressos internacionais

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