Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations

Familial Hypercholesterolemia (FH) is the most common of all genetic hypercholesterolaemias with defects in LDLR, APOB and PCSK9 accounting for the majority of cases. However, there are other rare disorders like sitosterolaemia that can present the same phenotype. Both can cause premature atheroscle...

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Detalhes bibliográficos
Autor principal: Padeira, G. (author)
Outros Autores: Gomes, I. (author), Correia, C. (author), Valongo, C. (author), Alves, A.C. (author), Medeiros, A. (author), Bourbon, M. (author), Ferreira, A.C. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2017
Assuntos:
Familial Hypercholesterolemia
Doenças Cardio e Cérebro-vasculares
Texto completo:http://hdl.handle.net/10400.18/4727
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/4727
Descrição
Resumo:Familial Hypercholesterolemia (FH) is the most common of all genetic hypercholesterolaemias with defects in LDLR, APOB and PCSK9 accounting for the majority of cases. However, there are other rare disorders like sitosterolaemia that can present the same phenotype. Both can cause premature atherosclerosis but have distinctive dietetic and therapeutic intervention.

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