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.