Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.
Case presentation: A 38-day old Chinese girl, born to non-consanguineous couple with normal perinatal history, presented with vomiting and suspected seizure. Examination showed hepatosplenomegaly with no xanthoma. During venesection, milky serum was noted. Blood tests showed triglyceride levels >150mmol/L and total cholesterol level 23.8mmol/L. Serum lipase was elevated at 2534 u/L (reference: 23-300 u/L) while amylase level was normal. Computed Tomography of abdomen showed features of acute pancreatitis. Lipoprotein pattern showed a dense chylomicron band while the intensity of the very low density lipoprotein (VLDL) band was mildly increased, compatible with type I hyperlipidaemia. Genetic study for the LPL gene confirmed heterozygous mutation: c.162C>A (exon2), c. 347G>c (exon3), C.835C>G(exon6).
She was kept fasted and started on hyperhydration with intravenous fluid. Triglyceride level dropped to 104mmol/L after 11 hours of fasting. Intravenous insulin infusion was then started. Triglyceride level decreased slowly to 1.2mmol/L after 84 hours before the infusion was stopped. Feeding was resumed after one week of fasting with Monogen, a low fat, medium chain triglyceride (MCT) based infant milk formula. She was discharged with normal lipase level and triglyceride level of 2.7mmol/L.
Weaning diet was started at 6-month of age with low fat diet (fat calorie 15% of total calories). Until the age of 5 years, triglyceride level was maintained at 2.2 to 2.9mmol/L while high-density lipoprotein cholesterol (HDL-C) remained low at 0.3 to 0.5 mmol/L. There were no further episodes of acute pancreatitis and she has normal growth and development.
Conclusion: Insulin infusion, together with fasting, resulted in rapid decline in triglyceride level in our patients with no side effects observed in our case. It is thus an effective and safe treatment strategy for paediatric patients with severe hypertriglyceridemia. For the long term management, low-fat diet with fat intake restricted to 10-15% of the total caloric consumption could be effective in patients with lipoprotein lipase deficiency, though compliance can be challenging in children.
1. Werlin SL, Kugathasan S, Frautschy BC. Pancreatitis in Children. J Pediatr Gastroenterol Nutr. 2003 Nov;37(5):591.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology