Familial Lipoprotein Lipase Deficiency

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

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/100000409 or http://rarediseases.info.nih.gov/html/resources/info_cntr.html

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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: 4/14/2005
Copyright 1987, 1988, 1989, 1995, 1996, 1997, 2005 National Organization for Rare Disorders, Inc.

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