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Familial Lipoprotein Lipase Deficiency

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Familial Lipoprotein Lipase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • hyperlipemia, idiopathic, Burger-Grutz type
  • hyperlipemia, essential familial
  • LIPD deficiency
  • lipase D deficiency
  • hyperlipoproteinemia, type 1A
  • LPL deficiency
  • hyperchylomicronemia, familial
  • Chylomicronemia, Familial
  • lipoprotein lipase deficiency
  • lipoprotein lipase, included; LPL, included

Disorder Subdivisions

  • None

General Discussion

Familial lipoprotein lipase deficiency is a rare hereditary enzyme deficiency that results in abnormal breakdown of fats in the body. It is characterized by a massive accumulation of fatty droplets (chylomicrons) in blood plasma and a corresponding increase of the blood plasma concentration of fatty substances called triglycerides. The disorder is caused by a mutation in the LPL gene leading to very low or absent activity of the lipoprotein lipase enzyme.

Symptoms of familial LPL deficiency usually begin in childhood and include abdominal pain, acute and recurrent inflammation of the pancreas (pancreatitis), skin lesions called eruptive cutaneous xanthoma and an enlargement of the liver and spleen (hepatosplenomegaly).

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/25/2008
Copyright  1987, 1988, 1989, 1995, 1996, 1997, 2005 National Organization for Rare Disorders, Inc.

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