ESPE Abstracts

Introduction: Extreme hypertriglyceridaemia is uncommon in the paediatric population but can have devastating consequences. It can lead to acute pancreatitis, cutaneous eruptive xanthomas and lipaemia retinalis. Severe hypertriglyceridemia likely accounts for 1-10% of acute pancreatitis cases in adults but there is limited data in children. We report a case of new-onset type 1 diabetes mellitus (T1DM) presenting in diabetic ketoacidosis (DKA) with acute pancreatitis owing to severe hypertriglyceridemia.

Case: A previously healthy 13-year-old boy (34 kg, 4^th percentile) presented to his local hospital with a short history of lethargy and abdominal pain. He was found to be in severe DKA (pH: 6.88, glucose: 21.5 mmol/l, bicarbonate: 5.3 mmol/l, ketones: 5 mmol/l). He received intravenous insulin and fluids. He was later transferred to our institution owing to reduced consciousness and agitation. Subsequently, CT head ruled out cerebral oedema. His blood was lipaemic with a maximum triglyceride level of 53 mmol/l (normal <1.7 mmol/l) and cholesterol 16.1 mmol/l. His amylase peaked at 989 IU/L (normal 25-125 IU/L), but CT abdomen was relatively unremarkable. His mild pancreatitis was managed conservatively. On day 2 of admission, he was transitioned to subcutaneous insulin with initiation of strict low-fat oral diet (fat <10 g/day). Serum triglycerides and amylase levels decreased to 4.21 mmol/l and 282 IU/L respectively by discharge. Incidentally, he was noted to have undetectable vitamin D and high parathyroid hormone (12.2pmol/l, normal 1.6-7.2pmol/l) levels. T1DM was confirmed by positive GAD and IA2 antibodies. He received intensive dietetic input after discharge. Post-discharge monthly lipid profiles showed gradual improvement. With cautious dietary fat liberalisation and adequate insulin treatment, triglycerides (0.81 mmol/l) and cholesterol (3.2 mmol/l) normalised by three months at which point he returned to full fat intake of 70-80 g/day. Vitamin D returned to normal after high dose replacement. Owing to strong family history of T1DM and heart disease, he had a familial chylomicronaemia syndrome gene panel which was negative.

Discussion: Although very rare in children, hypertriglyceridaemia can occur in T1DM owing to metabolic derangements and severe insulin deficiency. Increased hepatic free fatty acid uptake produces high very low density lipoprotein which causes hypertriglyceridaemia. It can lead to acute pancreatitis, especially with levels above 10 mmol/l. Insulin treatment to facilitate lipoprotein lipase mediated metabolism and careful dietary fat restriction are the mainstay of management. Refractory cases warrant urgent plasmapheresis. Our case illustrates that early recognition and timely intervention lead to satisfactory outcomes.