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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Familial lipoprotein lipase deficiency

Reviewed January 2008

What is familial lipoprotein lipase deficiency?

Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body. The condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly) and small yellow skin lesions called eruptive xanthomas.

How common is familial lipoprotein lipase deficiency?

This condition affects about 1 per million people worldwide. It is much more common in some areas of the province of Quebec, Canada.

What genes are related to familial lipoprotein lipase deficiency?

Mutations in the LPL gene cause familial lipoprotein lipase deficiency.

The LPL gene provides instructions for producing an enzyme called lipoprotein lipase. This enzyme helps break down fat-carrying molecules (lipoproteins). Lipoproteins normally carry fat molecules from the intestine into the bloodstream. As lipoproteins are broken down, they release fats that the body uses for energy or puts into storage. Mutations in the LPL gene prevent the enzyme from breaking down lipoproteins effectively. As a result, fatty substances build up in the bloodstream, leading to the signs and symptoms of familial lipoprotein lipase deficiency.

Related Gene(s)

Changes in this gene are associated with familial lipoprotein lipase deficiency.

  • LPL

How do people inherit familial lipoprotein lipase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of familial lipoprotein lipase deficiency?

These resources address the diagnosis or management of familial lipoprotein lipase deficiency and may include treatment providers.

  • Gene Review: Familial Lipoprotein Lipase Deficiency (http://www.ncbi.nlm.nih.gov/books/NBK1308)
  • Genetic Testing Registry: Hyperlipoproteinemia, type I (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0023817)
  • MedlinePlus Encyclopedia: Chylomicronemia Syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/000405.htm)
  • MedlinePlus Encyclopedia: Familial Lipoprotein Lipase Deficiency (http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm)

You might also find information on the diagnosis or management of familial lipoprotein lipase deficiency in Educational resources (http://www.ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about familial lipoprotein lipase deficiency?

You may find the following resources about familial lipoprotein lipase deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for familial lipoprotein lipase deficiency?

  • Burger-Grutz syndrome
  • Familial fat-induced hypertriglyceridemia
  • Familial LPL deficiency
  • Hyperchylomicronemia, Familial
  • Hyperlipoproteinemia Type I
  • Lipase D deficiency
  • LIPD deficiency
  • Lipoprotein Lipase Deficiency, Familial

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about familial lipoprotein lipase deficiency?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding familial lipoprotein lipase deficiency?

autosomal ; autosomal recessive ; breakdown ; cell ; deficiency ; enzyme ; familial ; gene ; hepatosplenomegaly ; hypertriglyceridemia ; inflammation ; inherited ; intestine ; lipase ; lipid ; lipoprotein ; metabolism ; pancreas ; pancreatitis ; recessive ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Benlian P, De Gennes JL, Foubert L, Zhang H, Gagné SE, Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med. 1996 Sep 19;335(12):848-54. Erratum in: N Engl J Med 1997 Feb 6;336(6):451. (http://www.ncbi.nlm.nih.gov/pubmed/8778602?dopt=Abstract)
  • Evans V, Kastelein JJ. Lipoprotein lipase deficiency--rare or common? Cardiovasc Drugs Ther. 2002 Jul;16(4):283-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12652096?dopt=Abstract)
  • Gene Review: Familial Lipoprotein Lipase Deficiency (http://www.ncbi.nlm.nih.gov/books/NBK1308)
  • Gilbert B, Rouis M, Griglio S, de Lumley L, Laplaud P. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. Ann Genet. 2001 Jan-Mar;44(1):25-32. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11334614?dopt=Abstract)
  • Mohandas MK, Jemila J, Ajith Krishnan AS, George TT. Familial chylomicronemia syndrome. Indian J Pediatr. 2005 Feb;72(2):181. (http://www.ncbi.nlm.nih.gov/pubmed/15758547?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: December 22, 2014