Familial Chylomicronemia Syndrome: clinical and molecular characterization of individuals WITH clinical diagnosis in Portugal

Alves, Ana Catarina; Abrantes, Leonor; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda; Gonçalves, Rute; Duarte, Sequeira; Guerra, António; Gaspar, Ana; Salgado, Miguel; Azevedo, Aida; Rato, Quitéria; Palma, Isabel; Bourbon, Mafalda

http://hdl.handle.net/10400.18/7715

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Abstract(s)

Aim: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, and liapemia retinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase (LPL). The aim of this study is to present all cases with FCS clinical diagnosis, studied in our laboratory.

Keywords

Hypertriglyceridemia Familial Chylomicronemia Familial Chylomicronemia Syndrome Clnical Characterization Molecular Characterization Portuguese Population Portugal Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/7715

Publisher

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Collections

DPSPDNT - Posters/abstracts em congressos internacionais

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