Which disease is caused due to vitamin E deficiency?

October 28, 2025 •

4 min read

While true dietary vitamin E deficiency is extremely uncommon in healthy individuals, neurological issues and muscle problems can result from certain genetic mutations or fat malabsorption disorders. The most specific condition is a progressive neurodegenerative disorder called ataxia with vitamin E deficiency (AVED), which severely impairs motor control and coordination.

Quick Summary

Ataxia with vitamin E deficiency (AVED) is a rare neurodegenerative disorder caused by genetic issues or fat malabsorption, resulting in severe neurological symptoms. Early detection and lifelong vitamin E supplementation can help manage the condition and slow its progression. Other symptoms may include muscle weakness, vision problems, and a compromised immune system.

Key Points

Ataxia with Vitamin E Deficiency (AVED): The specific genetic disease is caused by mutations in the TTPA gene, which impairs the body's ability to use vitamin E and leads to progressive neurodegeneration.
Fat Malabsorption is the Main Cause: In developed countries, vitamin E deficiency is rarely due to poor diet alone; instead, it often stems from disorders like cystic fibrosis, Crohn's disease, or liver disease that prevent fat-soluble vitamin absorption.
Neurological and Muscular Symptoms: Key signs of deficiency include progressive ataxia (poor coordination), muscle weakness, loss of reflexes, peripheral neuropathy (numbness), and vision problems.
Early Onset and Progression: AVED symptoms typically appear between ages 5 and 15 and worsen over time, with severe, prolonged deficiency potentially leading to blindness and heart issues.
Treatment is Lifelong Supplementation: Managing AVED requires high-dose, lifelong vitamin E supplementation. For malabsorption, treating the underlying condition alongside supplements is key.
Prevention Through Diet: A balanced diet rich in vitamin E sources like vegetable oils, nuts, and seeds is sufficient for most people to prevent deficiency.
High-Risk Individuals Need Monitoring: Premature infants and individuals with fat malabsorption disorders are at higher risk and should be monitored for vitamin E levels.

Understanding the Core Cause of Vitamin E Deficiency

Vitamin E is a potent antioxidant that protects the body's cells from oxidative damage caused by free radicals. A deficiency typically results not from poor dietary intake in developed nations, but from underlying conditions that prevent the proper absorption or metabolism of this fat-soluble vitamin. The most direct disease, Ataxia with Vitamin E Deficiency (AVED), is an inherited disorder caused by a mutation in the TTPA gene. This gene provides instructions for the alpha-tocopherol transfer protein, which is critical for distributing vitamin E throughout the body. When this protein is defective, vitamin E is rapidly excreted, leading to severe deficiency despite normal dietary intake.

Other diseases and disorders can also lead to secondary vitamin E deficiency by impairing the body's ability to absorb fat, which is necessary for vitamin E absorption. These include:

Cystic Fibrosis: A genetic disorder affecting mucus-producing glands, which can lead to pancreatic insufficiency and fat malabsorption.
Chronic Cholestatic Hepatobiliary Disease: Conditions causing decreased bile flow can disrupt the formation of micelles, which are needed for vitamin E absorption.
Crohn's Disease: An inflammatory bowel disease that interferes with nutrient absorption.
Abetalipoproteinemia: A rare inherited disorder of fat metabolism that results in poor absorption of dietary fat and, consequently, vitamin E.
Bariatric Surgery: Surgical procedures that alter the digestive system can reduce the absorption of fat-soluble vitamins, including vitamin E.

Symptoms and Progression of AVED

The symptoms of AVED typically begin to manifest between the ages of 5 and 15 years, though onset can vary. The progression of the disease is a result of the cumulative nerve damage caused by a lack of vitamin E. This damage affects the central and peripheral nervous systems, leading to a range of neurological and neuromuscular problems.

Common symptoms include:

Progressive ataxia, which causes difficulty with walking, balance, and coordination.
Muscle weakness, also known as myopathy, which can worsen over time.
Dysarthria, or slurred speech, due to poor muscle control.
Loss of reflexes in the legs (lower limb areflexia).
Peripheral neuropathy, resulting in numbness and a loss of sensation in the extremities.
Vision problems, such as a loss of peripheral vision caused by retinitis pigmentosa.
Other symptoms, such as head titubation (a head tremor), and, in late stages, cardiac arrhythmias and dementia can occur in severe, prolonged cases.

Treatment and Management of Vitamin E Deficiency

The treatment for a vitamin E deficiency depends on the underlying cause. If a genetic disorder like AVED or a severe malabsorption issue is the culprit, high-dose, lifelong vitamin E supplementation is required to prevent or slow the progression of symptoms. In cases of malabsorption due to conditions like cystic fibrosis or Crohn's disease, addressing the underlying gastrointestinal issue is also crucial.

Comparison of Treatment Approaches


Feature	Management for Genetic AVED	Management for Fat Malabsorption	Management for Low Dietary Intake
Cause	Mutation in the TTPA gene, impairing vitamin E distribution.	Underlying gastrointestinal or liver disease (e.g., cystic fibrosis, Crohn's).	Rare, typically due to extremely low-fat diets.
Dosage	Very high doses (e.g., 800–3600 IU per day) to compensate for transport issues.	Moderate to high supplementation (e.g., 15–25 mg/kg orally).	Standard dietary adjustments and, if needed, lower dose supplements.
Route	Primarily oral supplementation, but parenteral (injections) may be needed if oral absorption is ineffective.	Oral supplementation is typical, but injections may be used in severe malabsorption.	Focus on food sources; oral supplements as needed.
Lifespan	Lifelong treatment is necessary to manage symptoms and prevent further neurological deterioration.	Treatment duration depends on the management of the underlying disorder.	Correcting dietary habits and occasionally supplementing until levels are stable.
Outcome	Early intervention can prevent symptoms; treatment in symptomatic individuals can halt progression and may reverse some signs.	Symptoms improve with correction of vitamin E status and management of the underlying disease.	Symptoms generally resolve quickly once adequate intake is restored.

Long-Term Outlook and Prevention

For individuals with a genetic disease like AVED, early diagnosis is paramount. If high-dose vitamin E supplementation is started in childhood, it can prevent the manifestations of the disease from developing entirely. For those diagnosed later, treatment can stop the progression of neurological damage, though existing deficits may not be fully reversible.

Prevention in the general population is straightforward and involves a balanced diet. While deficiency is rare from diet alone, certain high-risk groups, such as premature infants or individuals with chronic fat malabsorption issues, require monitoring and potential supplementation. Eating a variety of foods rich in vitamin E, such as vegetable oils, nuts, and green leafy vegetables, is the best way to ensure adequate intake.

Conclusion

While a deficiency in vitamin E can cause several neurological and muscular issues, the specific disease most directly associated is a rare genetic disorder known as ataxia with vitamin E deficiency (AVED). Other conditions causing fat malabsorption can lead to similar deficiency symptoms over time. Fortunately, the disease can be managed effectively with timely and consistent vitamin E supplementation, particularly when diagnosed early. For the vast majority of people, maintaining adequate vitamin E levels is easily achieved through a balanced diet rich in nuts, seeds, and oils.

Visit the NIH Office of Dietary Supplements for more information on vitamin E

Frequently Asked Questions

The most common cause of vitamin E deficiency in developed nations is not poor dietary intake but rather an underlying disorder that impairs fat absorption. Conditions such as cystic fibrosis, Crohn's disease, and liver disease are frequent culprits because vitamin E is fat-soluble and requires fat for proper absorption.

The specific genetic disease is known as Ataxia with Vitamin E Deficiency (AVED). It is a rare, inherited neurodegenerative disorder caused by mutations in the TTPA gene, which impairs the body's ability to utilize vitamin E effectively.

Yes, if left untreated for a prolonged period, vitamin E deficiency can cause irreversible neurological damage. Early diagnosis and lifelong supplementation are crucial, especially in cases of genetic disorders, to prevent or halt the progression of neurological deficits.

Yes, vitamin E supplements are the primary treatment for deficiency and are effective in correcting it. High doses are often required for those with malabsorption disorders or genetic conditions to overcome the underlying issue and restore adequate levels.

Excellent food sources of vitamin E include vegetable oils (especially wheat germ, sunflower, and safflower), nuts (like almonds and hazelnuts), seeds (especially sunflower seeds), and green leafy vegetables (such as spinach and broccoli).

Diagnosis of vitamin E deficiency involves a physical examination and a blood test to measure the level of alpha-tocopherol in the serum. It is important to distinguish between dietary deficiency and malabsorption or genetic causes.

Yes, vitamin E deficiency can lead to vision problems. In severe, long-term cases, it can cause retinopathy, including retinitis pigmentosa, which results in vision loss.