Hyperlipoproteinemia type 1
Other Names for this Disease
- Hyperlipoproteinemia type I
- Lipoprotein lipase deficiency
- LPL deficiency
- Lipase D deficiency
- Hyperchylomicro-nemia familial
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 This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas. Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene. This condition is inherited in an autosomal recessive pattern. Treatment aims to control the symptoms through a low-fat diet.Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood.
Last updated: 3/8/2016
- Familial lipoprotein lipase deficiency. Genetics Home Reference Website. February 2015; https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency.
- Martin LJ, Zieve D. Familial lipoprotein lipase deficiency. MedlinePlus. April 30, 2015; http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm.
- Genetics Home Reference (GHR) contains information on Hyperlipoproteinemia type 1. This website is maintained by the National Library of Medicine.
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