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A case report of 5 y/o girl with familial chylomicronemia
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Peyman Eshraghi   , Mohammad Reza Esmaili Dooki , Mohammad Kazem Bakhshandeh Bali |
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Abstract: (9160 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. |
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| Keywords: Familial chylomicronemia, lipoprotein lipase, apolipoprotein CII deficiency |
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Full-Text [PDF 182 kb]
(3817 Downloads)
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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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