SAT-254 Recurrent Hypertriglyceridemia-induced Acute Pancreatitis Hiding Familial Hyperchylomicronemia Syndrome

Abstract Disclosure: E. Luna Ceron: None. S. Duvvuru: None. T.M. Bright: None. L. Chozet: None. Background: Familial hyperchylomicronemia syndrome (FCS) is an uncommon autosomal recessive metabolic condition resulting from mutations in the lipoprotein lipase (LPL) gene, leading to severely elevated plasmatic triglyceride (TG) levels. High TG levels can lead to various symptoms, including severe bouts of acute pancreatitis and cutaneous manifestations. Clinical case: A 26 years old male with history of recurrent episodes of acute pancreatitis was admitted for evaluation of 48 hours of ongoing epigastric pain with irradiation to his back, as well as nausea, vomit and poor oral tolerance. Physical examination was notable for the presence of eruptive xanthomas in bilateral knees. Initial testing was remarkable for neutrophilic leucocytosis (13x106, n 4.5-11x106 cells/mm3) and elevated serum lipase levels (4859, n 23-100 IU/L). Computed tomography of the abdomen with contrast was remarkable for peri-pancreatic fat stranding concerning for acute pancreatitis. Lipid profile showed markedly elevated TG levels (5250, n<150 mg/dl). A diagnosis of hypertriglyceridemia induced pancreatitis was made and the patient was admitted to the medical intensive care unit and started on an intravenous insulin infusion at a rate of 0.1 units/kg/hr while closely monitoring blood glucose levels. A separate 5% dextrose normal saline infusion at 150ml/hr was also started to prevent hypoglycemia. The insulin infusion was discontinued once TG achieved levels <500 mg/dl after 72 hrs of therapy. Due to a very high triglyceride level and recurrent episodes of acute pancreatitis, a genetic cause of hypertriglyceridemia was suspected. Genetic sent out testing was done remarkable for a large deletion on the LPL gene on chromosome 8. A diagnosis of FCS was done. Fenofibrate was started and the patient was sent to lipidology specialist for consideration of volanesorsen. Conclusion: This case emphasizes the importance of diagnosing FCS in patients with recurrent pancreatitis and elevated triglycerides. Genetic testing confirmed the diagnosis, leading to appropriate management with insulin, fenofibrate, and specialized care. Presentation: Saturday, July 12, 2025