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
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).
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