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Key Features

  • Most commonly results from

    • Severe malabsorption (eg, cystic fibrosis)

    • Abetalipoproteinemia (genetic disorder)

    • Chronic cholestatic liver disease (including biliary atresia)

Clinical Findings

  • Areflexia

  • Disturbances of gait

  • Decreased vibration and proprioception

  • Ophthalmoplegia

Diagnosis

  • Plasma vitamin E level below normal range of 0.5–0.7 mg/dL

Treatment

  • Vitamin E supplementation, although optimum therapeutic dose has not been clearly defined

  • Large doses, often administered parenterally, can be used to improve the neurologic complications seen in abetalipoproteinemia and cholestatic liver disease

  • Several trials of supplemental vitamin E have shown slower cognitive decline in patients with Alzheimer disease

  • Supplemental vitamin E has no benefit in preventing cardiovascular disease or cancer

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