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Familial lipoprotein lipase deficiency
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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.
Read more about the LPL gene.
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.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? 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?
What if I still have specific questions about familial lipoprotein lipase deficiency?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding familial lipoprotein lipase deficiency?
autosomal ; autosomal recessive ; cell ; deficiency ; enzyme ; familial ; gene ; hepatosplenomegaly ; hypertriglyceridemia ; inflammation ; 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.
See also Understanding Medical Terminology.
References (5 links)
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? in the Handbook.