RT - Journal Article T1 - A case report of 5 y/o girl with familial chylomicronemia JF - babol-caspjim YR - 2010 JO - babol-caspjim VO - 1 IS - 3 UR - http://caspjim.com/article-1-86-en.html SP - 115 EP - 117 K1 - Familial chylomicronemia K1 - lipoprotein lipase K1 - apolipoprotein CII deficiency AB - 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. LA eng UL http://caspjim.com/article-1-86-en.html M3 ER -