:: Volume 1, Issue 3 (1-2010) ::
Caspian J Intern Med 2010, 1(3): 115-117 Back to browse issues page
A case report of 5 y/o girl with familial chylomicronemia
Peyman Eshraghi *, Mohammad Reza Esmaili Dooki, Mohammad Kazem Bakhshandeh Bali
Abstract:   (8759 Views)
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.
Keywords: Familial chylomicronemia, lipoprotein lipase, apolipoprotein CII deficiency
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Type of Study: Original Article | Subject: Infectious Diseases
Received: 2014/01/14 | Accepted: 2014/01/14 | Published: 2014/01/14

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Volume 1, Issue 3 (1-2010) Back to browse issues page