2008/10/01 by Saira Waqar Lone, Aamer Imdad, Abdul Gaffar Billoo · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Caveolin-1 and cellular processes #Hyperglycemia and glycemic control in critically ill and hospitalized patients #Lipid metabolism and disorders
paper · doi:10.2008/jcpsp.655656
openalex publication_date 2008/10/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22
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.