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.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperlipoproteinemia type 1. Click on the link to view a sample search on this topic.