From the Guidelines
Vitamin E deficiency encephalopathy should be treated with oral vitamin E supplementation at a dose of 200 mg/day, as recommended by the most recent guideline evidence 1. This condition is a rare but serious neurological disorder that can occur in individuals with severe malnutrition, fat malabsorption, or genetic disorders affecting vitamin E absorption or transport. The symptoms of vitamin E deficiency encephalopathy include balance and coordination disorders, peripheral neuropathy, and muscle weakness, which can be improved with vitamin E supplementation after a few months of treatment, following normalization of vitamin E status 1.
Causes and Risk Factors
The causes of vitamin E deficiency encephalopathy include:
- Severe malnutrition
- Fat malabsorption due to inflammatory diseases or cystic fibrosis
- Genetic disorders such as abetalipoproteinemia or the absence of the alpha-tocopherol transfer protein (alpha-TTP)
- Bariatric surgery, which can increase the risk of vitamin E deficiency
Treatment and Monitoring
The treatment of vitamin E deficiency encephalopathy should include:
- Oral vitamin E supplementation at a dose of 200 mg/day, as recommended by the espen micronutrient guideline 1
- Monitoring of serum vitamin E levels to ensure that they are within the normal range
- Dietary adjustments to include vitamin E-rich foods like nuts, seeds, and vegetable oils
- In cases where oral supplementation is not effective, intravenous supplements may be required, although this is rare 1
Important Considerations
It is essential to note that large doses of vitamin E can result in over-replacement and exacerbate vitamin K deficiency, affecting blood coagulation 1. Therefore, care should be taken when prescribing vitamin E supplements, and serum levels should be monitored regularly to avoid over-replacement. Additionally, assessment of vitamin K should be performed when there is established fat-soluble vitamin deficiency with hepatopathy, coagulopathy, or osteoporosis 1.
From the Research
Vitamin E Deficiency Encephalopathy
- Vitamin E deficiency can have a profound effect on the central nervous system, leading to various neurologic deficits 2.
- The classic abnormalities in vitamin E deficiency progress from hyporeflexia, ataxia, limitations in upward gaze and strabismus to long-tract defects, profound muscle weakness and visual field constriction 2.
- Patients with severe, prolonged deficiency may develop complete blindness, dementia and cardiac arrhythmias 2.
Causes of Vitamin E Deficiency
- Cystic fibrosis, chronic cholestatic liver disease, abetalipoproteinemia, short bowel syndrome, isolated vitamin E deficiency syndrome and other malabsorption syndromes can cause varying degrees of neurologic deficits due to related vitamin deficiencies 2, 3, 4, 5.
- Vitamin E deficiency can also occur in patients with primary immunodeficiencies, such as common variable immunodeficiency (CVID) 4.
Treatment and Prevention
- Treatment must be tailored to the underlying cause of vitamin E deficiency and may include oral or parenteral vitamin supplementation 2, 3.
- Early detection and treatment of vitamin E deficiency can prevent, halt or reverse the neurological sequelae 4.
- Maintaining adequate supplementation is recommended, especially in patients with cystic fibrosis and other conditions that increase the risk of vitamin E deficiency 5.
Neurological Manifestations
- Vitamin E deficiency can cause a range of neurological manifestations, including abnormal eye movements, diminished reflexes, decreased vibratory and position sense, ataxia, and muscle weakness 3, 6.
- Symptomatic vitamin E deficiency has been reported in genetic defects of the vitamin E transport protein and in malabsorption complicating cholestasis, abetalipoproteinaemia, celiac disease, cystic fibrosis and small bowel resection 4.