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An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.




Chylomicronemia, familial
Hyperchylomicronemia, familial
Hyperlipemia, essential familial
Hyperlipemia, idiopathic, Burger-Grutz type
Hyperlipoproteinemia, type IA
Lipase D deficiency
LIPD deficiency
Lipoprotein lipase deficiency
LPL deficiency


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