apolipoprotein E deficiency
apolipoprotein E deficiencyA rare form of type-III hyperlipoproteinaemia (OMIM:107741) caused by a mutation of APOE on chromosome 19q13.32, which prevents binding of chylomicrons and VLDL to the LDL receptor.
Xanthomas (tuberous, planar, tendinous), precocious atherosclerosis and abnormal glucose tolerance.
Increased cholesterol, increased TGs, accumulation of beta-migrating remnants.
In experimental rodents, treatment with either endostatin or TNP-470 leads to dramatic reductions in the size of atherosclerotic lesions.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
apolipoprotein E deficiencyA rare cause of type III hyperlipoproteinemia, caused by specific mutations in apoE which prevent the binding of chylomicrons and VLDL to the LDL-receptor; AED is characterized by ↑↑↑ serum cholesterol, ↑ TGs, accumulation of β-migrating remnants, and premature ASHD. See Apolipoprotein E.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.