Which disease can be caused by the deficiency of vitamin E?

October 24, 2025 •

4 min read

According to health professionals, severe vitamin E deficiency is extremely rare in healthy adults but can lead to specific neurological disorders and nerve damage. This condition can cause serious disease in vulnerable populations or those with underlying health issues affecting fat absorption.

Quick Summary

A lack of vitamin E can lead to neurological issues like ataxia, peripheral neuropathy, and muscle weakness. This deficiency is often caused by fat malabsorption disorders or rare genetic conditions, rather than a low-fat diet.

Key Points

Neurological Disorders: The most significant disease caused by severe vitamin E deficiency is a progressive neurological syndrome, including peripheral neuropathy and ataxia.
Ataxia with Vitamin E Deficiency (AVED): This is a rare, inherited genetic disorder where the liver cannot properly distribute vitamin E, leading to severe deficiency and resulting nerve damage.
Hemolytic Anemia: In vulnerable groups like premature infants, a lack of vitamin E can cause red blood cells to rupture, leading to a blood disorder called hemolytic anemia.
Malabsorption Syndromes: In healthy adults, deficiency is most often a secondary symptom of underlying fat malabsorption disorders, such as cystic fibrosis, Crohn's disease, and chronic liver disease.
Irreversible Damage: If left untreated, the neurological damage caused by prolonged vitamin E deficiency can become permanent and irreversible.
Treatment: Treatment involves addressing the underlying cause and supplementing with high doses of vitamin E, which can halt or reverse symptoms if started early.
Preventative Measures: A balanced diet rich in nuts, seeds, vegetable oils, and leafy greens is sufficient for most people to prevent deficiency.

Understanding Vitamin E Deficiency

Vitamin E is a fat-soluble antioxidant that protects the body's cells from oxidative stress and free radical damage. Since it is fat-soluble, its absorption relies on adequate fat intake and proper digestive function. While a simple lack of vitamin E in the diet is an uncommon cause of deficiency in developed countries, underlying health conditions or genetic abnormalities often interfere with absorption or metabolism.

The primary disease caused by the deficiency of vitamin E is a progressive neurological disorder that affects the nervous system. This can manifest in a variety of symptoms that can worsen over time if left untreated. Damage to nerve fibers (neuropathy) is a key feature, which hinders the proper transmission of signals throughout the body.

Neuromuscular and Neurological Disorders

Neuromuscular problems are among the most prominent symptoms of severe vitamin E deficiency. As the deficiency progresses, it can lead to a cascade of related neurological issues. Nerve cells are particularly vulnerable to oxidative damage when vitamin E is insufficient, leading to their eventual breakdown.

Signs and symptoms of these neurological problems often progress in a predictable pattern:

Early stage: Initial signs may include a loss of deep tendon reflexes, such as the patellar reflex (areflexia), and decreased vibratory sense.
Intermediate stage: The condition can advance to truncal and limb ataxia, causing coordination and walking difficulties (ataxic gait). Muscle weakness, or myopathy, also becomes more apparent.
Late stage: Severe and prolonged deficiency can result in significant muscle weakness, limited upward gaze (ophthalmoplegia), difficulty with speech (dysarthria), and potential blindness due to retinal damage (retinopathy).

Genetic Disorders Linked to Deficiency

Several genetic conditions can directly cause or predispose individuals to vitamin E deficiency, even with adequate dietary intake. One such condition, ataxia with vitamin E deficiency (AVED), is an autosomal recessive disorder caused by mutations in the TTPA gene. This gene provides instructions for the alpha-tocopherol transfer protein (αTTP), which is necessary for the liver to distribute vitamin E throughout the body. Without a functional αTTP, vitamin E levels in the blood and tissues become severely reduced, leading to nerve damage.

Other Related Medical Conditions

Beyond genetic causes, other health issues can prevent the proper absorption of vitamin E from food. These fat malabsorption disorders are a more common cause of deficiency in well-nourished populations.

Cystic Fibrosis: This genetic disorder affects the body's ability to produce necessary digestive enzymes, impairing the absorption of fat-soluble vitamins.
Chronic Liver or Gallbladder Disorders: Conditions that reduce bile production or flow can interfere with fat absorption, leading to vitamin E deficiency.
Crohn's Disease: As an inflammatory bowel disease, Crohn's can damage the intestinal lining, hindering nutrient absorption.
Bariatric Surgery: Surgical procedures that alter the digestive tract, such as gastric bypass, can impact nutrient absorption, necessitating long-term vitamin supplementation.

Comparison of Vitamin E Deficiency-Related Conditions


Condition	Cause	Primary Symptoms	Treatment	Prognosis with Treatment
Ataxia with Vitamin E Deficiency (AVED)	Genetic mutation in the TTPA gene.	Progressive ataxia, neuropathy, vision problems.	High-dose vitamin E supplementation.	Good if started early; neurological effects can be halted or reversed.
Fat Malabsorption (e.g., from Cystic Fibrosis)	Underlying digestive disorders impacting nutrient uptake.	Neuromuscular issues, hemolytic anemia (in infants), nerve damage.	Treating the underlying condition and oral or parenteral vitamin E supplementation.	Varies based on the underlying disease; early and consistent treatment is crucial.
Dietary Insufficiency	Extremely low-fat diets or malnutrition.	Rare in developed countries; symptoms similar to malabsorption if severe.	Dietary changes to include vitamin E-rich foods; supplementation if needed.	Excellent; symptoms are easily reversed with adequate intake.

Anemia Caused by Vitamin E Deficiency

In addition to neurological issues, vitamin E deficiency can lead to a specific type of blood disorder called hemolytic anemia. As a powerful antioxidant, vitamin E plays a crucial role in protecting red blood cells from oxidative damage. Without sufficient vitamin E, red blood cells become fragile and susceptible to damage, causing them to rupture (hemolysis).

This is particularly relevant for premature infants with very low birth weight, who have limited vitamin E reserves because only small amounts cross the placenta during fetal development. In these infants, a lack of vitamin E can cause a serious form of hemolytic anemia and increase the risk of other complications, such as retinopathy of prematurity, a condition involving abnormal blood vessel growth in the eyes.

Conclusion: Diagnosis and Prevention

Given that many of the most severe manifestations of vitamin E deficiency, such as ataxia and nerve damage, are a consequence of underlying conditions rather than simple dietary intake, proper diagnosis is critical. A healthcare provider will typically perform a physical examination and may order blood tests to measure serum alpha-tocopherol levels. Management of the deficiency involves addressing the root cause and providing oral or, in some cases, injected vitamin E supplementation.

For healthy individuals, prevention is straightforward: maintain a balanced diet that includes vitamin E-rich foods. These include leafy greens, nuts, seeds, and vegetable oils. Regular monitoring and appropriate supplementation are essential for those with chronic malabsorption disorders or inherited conditions to prevent the onset or progression of serious neuromuscular and neurological damage. Prevention is key, as the neurological damage associated with advanced, prolonged deficiency is often irreversible.

This article is for informational purposes only and does not constitute medical advice. Consult with a healthcare provider for any health concerns or before making changes to your diet or supplementation.

Frequently Asked Questions

The primary neurological disorder caused by severe vitamin E deficiency is a progressive nerve damage syndrome, characterized by symptoms such as peripheral neuropathy, which includes numbness and tingling, and ataxia, which impairs coordination and balance.

Yes, vitamin E deficiency can cause vision problems, including eye muscle weakness (ophthalmoplegia), limited upward gaze, and damage to the retina (retinopathy), which can lead to vision loss if the condition is prolonged and severe.

No, a low-fat diet alone is rarely the sole cause of vitamin E deficiency in developed nations. It is far more commonly caused by underlying conditions that impair the body's ability to absorb fat and, consequently, fat-soluble vitamins like E.

Conditions that lead to poor vitamin E absorption include cystic fibrosis, chronic liver and gallbladder disorders that affect bile flow, Crohn's disease, and complications following certain bariatric surgeries.

Vitamin E deficiency can be treated with high-dose supplements, and early intervention can halt or reverse the progression of neurological symptoms. However, if the deficiency is prolonged and severe, the neurological damage may become irreversible.

Premature infants, especially those with very low birth weight, are at a higher risk of developing hemolytic anemia because they have low vitamin E reserves at birth.

For most people, a balanced diet including foods rich in vitamin E is sufficient for prevention. Sources include nuts, seeds, vegetable oils, and leafy green vegetables. Individuals with malabsorption issues require medical supervision and supplementation.