Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep584 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024

A novel lipoprotein lipase mutation in familial chylomicronemia syndrome – two case reports

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...