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Remnant hyperlipidemia, Remnant hyperlipoproteinaemia, Broad beta disease [1] and Remnant removal disease [1] Familial dysbetalipoproteinemia is caused by this point mutation in ApoE Specialty
Remnant hyperlipidemia occurs as a result of abnormal function of the ApoE receptor, which is normally required for clearance of chylomicron remnants and IDL from the circulation. The receptor defect causes levels of chylomicron remnants and IDL to be higher than normal in the blood stream.
Remnant cholesterol is the cholesterol content of triglyceride-rich lipoproteins, which consist of very low-density lipoproteins and intermediate-density lipoproteins with chylomicron remnants. [ 2 ] [ 5 ] Remnant cholesterol is primarily chylomicron and VLDL, and each remnant particle contains about 40 times more cholesterol than LDL.
Chylomicron structure ApoA, ApoB, ApoC, ApoE (apolipoproteins); T (triacylglycerol); C (cholesterol); green (phospholipids). Chylomicrons transport lipids absorbed from the intestine to adipose, cardiac, and skeletal muscle tissue, where their triglyceride components are hydrolyzed by the activity of the lipoprotein lipase, allowing the released free fatty acids to be absorbed by the tissues.
Autodigestion of local tissues also leads to disruptions in pancreatic microvascular tissue which can cause an ischemia-reperfusion event at the pancreatic level. There are other varying secondary causes of pancreatitis that can further contribute to the primary scenario of pancreatitis related to familial hypertriglyceridemia.
Hyperlipidemia is the presence of elevated or abnormal levels of lipids and/or lipoproteins in the blood. Lipid and lipoprotein abnormalities are extremely common in the general population, and are regarded as a highly modifiable risk factor for cardiovascular disease. In addition, some forms may predispose to acute pancreatitis.
Familial combined hyperlipidemia (FCH) is the familial occurrence of this disorder, probably caused by decreased LDL receptor and increased ApoB. Acquired combined hyperlipidemia is extremely common in patients who have other diseases from the metabolic syndrome ("syndrome X", incorporating diabetes mellitus type II , hypertension , central ...
Apolipoprotein A-V is a protein that in humans is encoded by the APOA5 gene on chromosome 11. [5] [6] [7] It is significantly expressed in liver. [8]The protein encoded by this gene is an apolipoprotein and an important determinant of plasma triglyceride levels, a major risk factor for coronary artery disease.