Bassen-Kornzweig Syndrome
Alternate Names : Abetalipoproteinemia, Acanthocytosis, Apolipoprotein B Deficiency
Diagnosis & Tests
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CBC (complete blood count) that shows abnormally shaped red blood cells (thorny appearance)
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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
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