Familial chylomicronemia syndrome in Portugal

• Author(s): Alves, Ana Catarina ; Miranda, Beatriz ; Sequeira, Sílvia ; Moldovan, Oana ; Nunes, Catarina ; Antunes, Henedina ; Martins, Esmeralda ; Gonçalves, Rute ; Duarte, Sequeira ; Guerra, António ; Gaspar, Ana ; Salgado, Miguel ; Azevedo, Aida ; Araújo, Francisco ; Ferreira, Ana Cristina ; Rato, Quitéria ; Palma, Isabel ; Bourbon, Mafalda
• Date: 2021
• Persistent ID: http://hdl.handle.net/10400.18/8110
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Familial chylomicronemia Syndrome; Doenças Cardio e Cérebro-vasculares; Portugal
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

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, andliapemiaretinalis. 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.