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JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2008; 18 (10): 655-656
in English | IMEMR | ID: emr-102911

ABSTRACT

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. We report a rare case of familial Chylomicronemia in a 9-month-old infant, who was diagnosed after his plasma was incidentally found to be milky. Lipid profile showed familial Chylomicronemia [Type 1 Hyperlipidemia]. The infant was started on a low fat diet and advised a regular follow-up


Subject(s)
Humans , Male , Hyperlipoproteinemia Type I/diet therapy , Lipoproteins/metabolism , Xanthomatosis , Pancreatitis , Chylomicrons , Triglycerides , Hyperlipoproteinemia Type I/diagnosis
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