Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Hyperlipoproteinemia type 1


Other Names for this Disease

  • Chylomicronemia syndrome
  • Chylomicronemia, familial
  • Familial chylomicronemia
  • Hyperchylomicro-nemia familial
  • Hyperlipemia idiopathic Burger-Grutz type
More Names
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body.[1] 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. Mutations in the LPL gene cause hyperlipoproteinemia type 1, and this condition is inherited in an autosomal recessive pattern. The treatment for hyperlipoproteinemia type 1 is a low-fat diet.[2]
Last updated: 8/24/2009

References

  1. Familial lipoprotein lipase deficiency. Genetics Home Reference Website. January 2008; http://ghr.nlm.nih.gov/condition=familiallipoproteinlipasedeficiency. Accessed 8/24/2009.
  2. Dugdale DC, Zieve D. Familial lipoprotein lipase deficiency. Medline Plus Web site. May 3, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm. Accessed 8/24/2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Hyperlipoproteinemia type 1 have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.
Other Names for this Disease
  • Chylomicronemia syndrome
  • Chylomicronemia, familial
  • Familial chylomicronemia
  • Hyperchylomicro-nemia familial
  • Hyperlipemia idiopathic Burger-Grutz type
More Names
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.