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
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.
Type of Study:
Original Article |
Subject:
Infectious Diseases Received: 2014/01/14 | Accepted: 2014/01/14 | Published: 2014/01/14