Familial Lipoprotein Lipase Deficiency

National Organization for Rare Disorders, Inc.

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.


  • 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).


CLIMB (Children Living with Inherited Metabolic Diseases)
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Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

NIH/National Digestive Diseases Information Clearinghouse
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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)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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