Apolipoprotein E deficiency | definition of apolipoprotein E deficiency by Medical dictionary
apolipoprotein E deficiency
apolipoprotein E deficiency A 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.
apolipoprotein E deficiency A 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.
References in periodicals archive
Familial apolipoprotein E deficiency. J Clin Invest 1986; 78:1206-19.
Type III hyperlipoproteinemia associated with apolipoprotein E deficiency. Science 1981;214: 1239-41.
Pathophysiology of apolipoprotein E deficiency
in mice: relevance to apo E related disorders in humans.