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Pathway Description
Familial Lipoprotein Lipase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-11-25
Familial lipoprotein lipase deficiency (LPLD), also known as familial chylomicronemia syndrome, chylomicronemia, chylomicronemia syndrome, and hyperlipoproteinemia type Ia, is an extremely rare inherited inborn error of metabolism (IEM) of lipid metabolism. LPLD affects about 1 out of 1 000 000 people. It is an autosomal recessive disorder that is caused by a defect or deficiency in the enzyme lipoprotein lipase. Lipoprotein lipase is a water-soluble enzyme that hydrolyzes triglycerides in lipoproteins, such as those found in chylomicrons and very-low-density lipoproteins (VLDL), into two free fatty acids and one monoacylglycerol molecule. Defects in lipoprotein lipase will lead to accumulations of triglycerides and massive accumulation of fatty droplets called chylomicrons in the blood. As a result, LPLD is characterized by abnormally elevated levels of triglycerides and chylomicrons in serum and plasma (chylomicronemia). Affected individuals often experience episodes of abdominal pain, acute recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen, and the development of skin lesions known as eruptive xanthomas. Most cases of LPLD are identified before the age of 10. In roughly one-quarter of patients, the disorder is identified during the first year of life. Some affected individuals may not be identified until adulthood. Treatment of LPLD is mainly based on medical nutrition therapy to maintain plasma triglyceride concentration below 11.3 mmol/L. Lipid-lowering agents such as fibrates and omega-3-fatty acids can be used to lower triglyceride levels in LPLD.
References
Familial Lipoprotein Lipase Deficiency References
[Metagen: FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=325)
[OMIM: 238600](http://omim.org/entry/238600})
[Hyperlipidemia](http://en.wikipedia.org/wiki/Hyperlipidemia)
Burnett JR, Hooper AJ, Hegele RA: Familial Lipoprotein Lipase Deficiency
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