Which of the following is increased in lipoprotein lipase deficiency?
Lipoprotein lipase deficiency (Type I hyperlipoproteinemia): is a rare, autosomal recessive disorder caused by a deficiency of lipoprotein lipase.Resulting in fasting chylomicronemia and hyperiglycerolemia.There is slow clearance of chylomicrons and VLDL. Low levels of LDL and HDL. There is no increased risk of coronary disease. Lipoprotein lipase (LPL): is a glycoprotein anchored to proteoglycans that decorate the capillary endothelial surfaces of adipose tissue, hea and skeletal muscle. The triglycerides of chylomicrons are hydrolyzed by LPL, and free fatty acids are released. ApoC-II, which is transferred to circulating chylomicrons from HDL, acts as a cofactor for LPL in this reaction. LPL deficiency has autosomal recessive inheritance. Both LPL and apoC-II deficiency usually present in childhood with recurrent episodes of severe abdominal pain due to acute pancreatitis. Deficiency leads to Increase TG & Increase Chylomicrons Chylomicrons are grossly increased and there is slow clearing of chylomicrons VLDL is also increased (but chylomicrons dominate). Decrease in LDL and Hdl DL Hyperlipoproteinemias Disease Inheritance Defect Elevated Lipoproteins and lipids Familial lipoprotein lipase deficiency (type I) AR Deficiency of LPL, abnormal LPL, or apo C-II deficiency causing inactive LPL. Increased TG and chylomicrons Slow clearance of chylomicrons and VLDL. Low levels of LDL and HDL. No increased risk of coronary disease. Familial hypercholesterolemia (type IIa) AD Defective LDL receptors or mutation in ligand region of apo B-100. Increased cholesterol Elevated LDL Results in atherosclerosis and coronary disease. Familial combined hyperlipidemia (type IIb) Unknown Excessive VLDL secretion from increased ApoB100 and LDL (decreased LDL receptor) Increased LDL and VLDL. Familial type III hyperlipoproteinemia (broad beta disease, remnant removal disease, familial dysbetalipoproteinemia Deficiency in remnant clearance by the liver is due to abnormality in apo E. Patients lack isoforms E3 and E4 and have only E2, which does not react with the E receptor. Increase in chylomicron and VLDL remnants of density < 1.019 (VLDL). G and cholesterol Causes hypercholesterolemia, xanthomas, and atherosclerosis. Familial hyperiacylglyceridemia (type IV) AD Overproduction of VLDL often associated with glucose intolerance and hyperinsulinemia. Cholesterol levels rise with the VLDL concentration. LDL and HDL tend to be subnormal. This type of pattern is commonly associated with coronary hea disease, type II diabetes mellitus, obesity, alcoholism, and administration of progestational hormones. Endogenous hyperiglyceridemia (Type V) Chylomicrons and VLDL Glucose intolerance and hyperuricemia Ref: Chatterjee Shide. 4th Editon, p374
VLDL
LDL
HDL
Chylomicrons