The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes

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 phe...

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Detalhes bibliográficos
Autor principal: Mariano, C. (author)
Outros Autores: Antunes, M. (author), Medeiros, A.M. (author), Alves, A.C. (author), Futema, M. (author), Humphries, S.E. (author), Bourbon, Mafalda (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2018
Assuntos:
Familial Hypercholesterolaemia
Cardiovascular Risk
Doenças Cardio e Cérebro-vasculares
Texto completo:http://hdl.handle.net/10400.18/5171
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5171
Descrição
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.

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