Alves, Ana CatarinaAbrantes, LeonorSequeira, SílviaMoldovan, OanaNunes, CatarinaAntunes, HenedinaMartins, EsmeraldaGonçalves, RuteDuarte, SequeiraGuerra, AntónioGaspar, AnaSalgado, MiguelAzevedo, AidaRato, QuitériaPalma, IsabelBourbon, Mafalda2021-04-302021-04-302020-10http://hdl.handle.net/10400.18/7715Aim: 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.engHypertriglyceridemiaFamilial ChylomicronemiaFamilial Chylomicronemia SyndromeClnical CharacterizationMolecular CharacterizationPortuguese PopulationPortugalDoenças Cardio e Cérebro-vascularesconference object