A case report of 5 y/o girl with familial chylomicronemia
Authors
Abstract:
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.
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Journal title
volume 1 issue None
pages 115- 117
publication date 2010-01
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