ESPE Abstracts

Introduction: Familial chylomicronemia syndrome (FCS) is an extremely rare monogenic disease with a prevalence of 1-2:1,000,000. Defects in lipoprotein lipase (LPL) are the main cause. Recurrent acute pancreatitis is a life-threatening complication of FCS. Insulin therapy is known to be a mode of treatment for hypertriglyceridemia.

Case series: We present four children with genetically confirmed LPL deficiency followed up in our clinic who showed favorable responses to insulin. The first patient presented at 35 days with incidental findings of a lipemic sample. Initial triglyceride (TG) was 6531mg/dl. She had hepatosplenomegaly and was started on fenofibrate and statins with a minimum biochemical response. At 4 years and 6 months of age, she was started on subcutaneous(S/C) soluble insulin. Patient 2 presented at 3 years with a lipemic sample (TG 668mg/dl). He was started on intermittent insulin dextrose infusion and S/C long-acting insulin 6 months later due to recurrent acute pancreatitis (RAP). After the initial response, he continued to have frequent RAP and needed plasmapheresis 4 years later. Patient 3 presented at 7 years of age and was started on insulin-dextrose infusion followed by S/C long-acting insulin after the failure of oral drugs. She is clinically stable to date. Patient 4 presented at 2 months with vomiting and was started on insulin infusion along with fibrates from the beginning with clinical and biochemical improvement.

Discussion and conclusions: Cases 1, 2, and 4 had biochemical as well as clinical improvement after insulin therapy. Despite an initial response to insulin, patient 3 needed plasmapheresis. Insulin therapy should be considered in patients with difficult to treat hypertriglyceridemia. It’s equivalent in efficacy to plasmapheresis, cost-effective, and associated with fewer complications.