CBC (complete blood count) that shows abnormally shaped red blood cells (thorny appearance)
Cholesterol studies, including total cholesterol that shows low levels of VLDL and LDL
Stool collection that shows elevated fat levels
Low levels of fat-soluble vitamins such as vitamins A, D, E, or K
Ophthalmology exam showing retinal degeneration
Absent or low apolipoprotein B levels in blood
Genetic testing may be available for mutations in the APOB or MTP genes
EMG or nerve conduction velocity testing may show demyelination of peripheral nerves
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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