Volume 1, Issue 3 (1-2010)                   Caspian J Intern Med 2010, 1(3): 115-117 | Back to browse issues page

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Eshraghi P, Esmaili Dooki M R, Bakhshandeh Bali M K. A case report of 5 y/o girl with familial chylomicronemia. Caspian J Intern Med 2010; 1 (3) :115-117
URL: http://caspjim.com/article-1-86-en.html
A case report of 5 y/o girl with familial chylomicronemia
Peyman Eshraghi * , Mohammad Reza Esmaili Dooki , Mohammad Kazem Bakhshandeh Bali
Abstract:   (9746 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
Full-Text [PDF 182 kb]   (4284 Downloads)    
Type of Study: Original Article | Subject: Infectious Diseases
Received: 2014/01/14 | Accepted: 2014/01/14 | Published: 2014/01/14
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