Familial chylomicronemia syndrome in Portugal

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.