Familial Lipoprotein Lipase Deficiency

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Familial Lipoprotein Lipase Deficiency is not the name you expected.

Disorder Subdivisions

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General Discussion

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglycerides. Affected individuals often experience episodes of abdominal pain, acute recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as eruptive xanthomas. Familial LPL deficiency is caused by mutations in the lipoprotein lipase (LPL) gene and is inherited as an autosomal recessive trait. Recently, mutations in other genes besides LPL were found to cause a clinical picture similar to LPL deficiency.
Chylomicronemia syndrome is a general term for the symptoms that develop due to the accumulation of chylomicrons in the plasma. There are many causes of chylomicronemia syndrome. The term familial chylomicronemia is sometimes used synonymously with familial lipoprotein lipase deficiency. However, there are different causes of familial chylomicronemia. In the past, familial lipoprotein lipase deficiency has also been called hyperlipoproteinemia type I. Familial LPL deficiency was first described in the medical literature in 1932 by Drs. Burger and Grutz.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

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
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Website: http://www2.niddk.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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Last Updated:  7/14/2015
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