ESPE Abstracts

Introduction: Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in the accumulation of chylomicrons in plasma and therefore hypertriglyceridemia. Elevated triglycerides (TG) cause several complications, the most serious one is recurrent pancreatitis. The mainstream of management is a fat-restricted diet, followed by supplementing with Omega-3 fatty acids. Fenofibrate, and statins, are usually added at an older age.

Case: We report a challenging case of a 6-year-old child who presented initially at the age of 4 years, with acute abdominal pain, found to have acute pancreatitis, further evaluation revealed hypertriglyceridemia. Her biochemical investigations showed: Apolipoprotein A1 (0.92, N:1.08- 2.25 g/L), Apolipoprotein B (1.25, N:0.6- 1.17g/L), Leptin (0.39, N:0.39- 1.86 mg/L for BMI 12 Kg/m2), Triglycerides (68.5, N:0-2.3 mmol/L), Cholesterol (13.8, N:3.5 – 5.2 mmol/L), Cholesterol HDL (0.16), Non- HDL Cholesterol (13.6). Father is obese and his lipid profile showed high cholesterol of 8.8 mmol/L and triglyceride of 3 mmol/L, while the mother had a normal lipid profile. The whole exome sequencing was negative. Clinical examination revealed appropriate growth and development and no distinctive features apart from bilateral lipemia retinalis. Over the course of her management and despite the extensive education about restricting fat in the diet, the child attained 10 episodes of pancreatitis over a span of 2 years. The highest TG level reached 128 mmol/L. TG usually drops by 50% within 24 hrs of hyperhydrating with 1.5 fluid maintenance and keeping her nil per mouth. Giving the frequency of her pancreatitis and lipemia retinalis. She was started on fenofibrate 200mg capsules, an antilipemic agent (off-label for the age and the only available formula in Oman so far) to reduce the frequency of pancreatitis.

Conclusion: FCS is a very rare condition, and often either misdiagnosed or not diagnosed at all, hence it is important to raise the awareness of paediatric endocrinologists about this condition. FCS management can be very challenging, especially in young-aged children and when the other family members and surrounding people are not affected and have access to a variety of food. These factors may increase the chance of a young child being exposed to fat-rich food leading to hospitalization to manage acute pancreatitis that can be developed quickly regardless of the ingested amount. Fenofibrate has been used off-label to reduce the frequency of pancreatitis and other complications, with close monitoring of liver enzymes.