Familial Lipoprotein Lipase Deficiency / Disease

Diseases & Conditions

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Familial Lipoprotein Lipase Deficiency

Synonyms of Familial Lipoprotein Lipase Deficiency

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

Disorder Subdivisions

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).

Organizations related to Familial Lipoprotein Lipase Deficiency

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: [email protected]
Home page: http://www.CLIMB.org.uk
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-519-3194
800 #: 888-205-2311
e-mail: [email protected]
Home page: http://www.genome.gov/10000409
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: [email protected]
Home page: http://www.niddk.nih.gov

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