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.

Clinical findings
Xanthomas (tuberous, planar, tendinous), precocious atherosclerosis and abnormal glucose tolerance.

Lab
Increased cholesterol, increased TGs, accumulation of beta-migrating remnants.

Treatment
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 ?
Pathophysiology of apolipoprotein E deficiency in mice: relevance to apo E related disorders in humans.