ea0099ep584 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024
Moreno Telma
, Ribeiro Sara
, Freixo Joao
, Pinhao Silvia
, Correia Flora
, Rodrigues Elisabete
Introduction: Familial chylomicronemia syndrome (FCS) is a rare inherited disorder of lipoprotein metabolism leading to severe hypertriglyceridemia and increased risk for acute pancreatitis. Mutations in the lipoprotein lipase (LPL) gene account for the majority of cases of monogenic chylomicronemia.Methods: We report the cases of two white males with a novel homozygous mutation in position 332 of the LPL gene.Res...