A case report of 5 y/o girl with familial chylomicronemia

Background: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. Case presentation: We report a rare case of familial chylomicronemia in a 5 year old girl who was diagnosed after her plasma was incidentally found to be milky. Lipid profile showed familial chylomicronemia. The girl was advised on a low fat diet and a regular follow up check up. Conclusion: Pediatricians should be alerted for the possibility of familial hyperchylomicronemia due to apolipoprotein CII deficiency and initiate appropriate treatment.