Familial hyperchylomicronemia: Difference between revisions
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==Overview== | ==Overview== | ||
This very rare form is due to a deficiency of [[lipoprotein lipase]] (LPL) or altered [[apolipoprotein C2]], resulting in elevated [[chylomicron]] which are the particles that transfer fatty acids from the [[digestive tract]] to the [[liver]]. Lipoprotein lipase is also responsible for the initial breakdown of endogenously made triacylglycerides in the form of very low density lipoprotein ([[VLDL]]). As such, one would expect a defect in LPL to also result in elevated VLDL. Its prevalence is 0.1% of the population. | This very rare form is due to a deficiency of [[lipoprotein lipase]] (LPL) or altered [[apolipoprotein C2]], resulting in elevated [[chylomicron]] which are the particles that transfer fatty acids from the [[digestive tract]] to the [[liver]]. Lipoprotein lipase is also responsible for the initial breakdown of endogenously made triacylglycerides in the form of very low density lipoprotein ([[VLDL]]). As such, one would expect a defect in LPL to also result in elevated VLDL. Its prevalence is 0.1% of the population. | ||
==References== | |||
{{Reflist|2}} | |||
[[Category:Lipopedia]] | [[Category:Lipopedia]] |
Revision as of 13:33, 14 September 2013
Lipoprotein Disorders Microchapters |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Type I hyperlipoproteinemia, Burger-Grutz syndrome, primary hyperlipoproteinemia, lipoprotein lipase deficiency, LPL deficiency, idiopathic hyperlipemia, essential hyperlipemia, familial hyperlipemia, lipase D deficiency, hyperlipoproteinemia type IA, familial chylomicronemia
Overview
This very rare form is due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein C2, resulting in elevated chylomicron which are the particles that transfer fatty acids from the digestive tract to the liver. Lipoprotein lipase is also responsible for the initial breakdown of endogenously made triacylglycerides in the form of very low density lipoprotein (VLDL). As such, one would expect a defect in LPL to also result in elevated VLDL. Its prevalence is 0.1% of the population.
References