Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E
Symptoms:
Yellow deposits of fatty material in the skin called xanthomas may appear on the palm of the hand, sole of the foot, or on tendons of knees and elbows, and on the eyelids.
There may be early chest pain (angina) or decreased blood flow to other parts of the body, causing transient ischemic attacks of the brain or claudication of the legs.
Signs and tests:
A physical exam revealing characteristic xanthomas
Significantly increased remnants of VLDL and chylomicrons
Elevated total cholesterol
Elevated triglycerides
Increased liklihood of apoE2 genotype
Defective apoE protein
Atherosclerosis evident by angiogram
Abnormal heart stress test
Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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