Which of the following diseases is caused due to the deficiency of vitamin E?

October 21, 2025 •

4 min read

While severe dietary deficiency of vitamin E is exceptionally rare in healthy adults, certain underlying medical or genetic conditions can lead to critically low levels, causing serious health problems. A key consequence of this deficiency is hemolytic anemia, where red blood cells are destroyed, an effect particularly noted in premature infants.

Quick Summary

Vitamin E deficiency primarily causes neuromuscular and neurological issues like ataxia and peripheral neuropathy, muscle weakness, vision problems, and hemolytic anemia. These conditions often stem from fat malabsorption disorders or rare genetic defects, not typically from dietary insufficiency alone. Treatment involves addressing the root cause and supplementing vitamin E intake.

Key Points

Neurological Disorders: Vitamin E deficiency can lead to severe neurological issues, including ataxia (impaired coordination), peripheral neuropathy (tingling and numbness), and damage to nerve fibers.
Hemolytic Anemia: In this blood disorder, red blood cells are damaged and destroyed due to oxidative stress, a known consequence of vitamin E deficiency, particularly in premature infants.
Causes Are Often Not Dietary: For healthy adults, a deficiency is almost always caused by an underlying fat malabsorption disorder (like cystic fibrosis or Crohn's disease) or a rare genetic condition, rather than a lack of vitamin E in the diet.
Treatment Addresses the Root Cause: The treatment for vitamin E deficiency involves high-dose supplementation, often for life, and addressing the primary medical condition responsible for poor absorption.
Other Symptoms: Additional signs of deficiency can include vision impairment (retinopathy), muscle weakness (myopathy), and a weakened immune system.
Genetic Conditions: Rare genetic diseases, such as Ataxia with Vitamin E Deficiency (AVED), specifically impair the body's ability to retain and utilize vitamin E.

What is Vitamin E and Its Role in the Body?

Vitamin E is a fat-soluble vitamin and a powerful antioxidant that protects the body's cells from oxidative damage caused by unstable molecules called free radicals. It plays a crucial role in maintaining cellular health, supporting immune function, and protecting cell membranes, which are particularly susceptible to oxidative stress due to their high fatty acid content. While most healthy individuals obtain sufficient vitamin E from their diet, deficiency can arise from disorders that prevent the proper absorption of fats, as vitamin E requires fat for absorption.

Diseases Caused by Vitamin E Deficiency

Deficiency is not a single disease but a condition that leads to a cascade of health issues, with the most pronounced effects impacting the nervous system, muscles, and blood. The specific conditions that manifest depend on the severity and duration of the deficiency.

Neurological Complications

Neurological damage is one of the most serious outcomes of prolonged vitamin E deficiency. Because vitamin E is crucial for protecting the fatty sheaths of neurons, a lack of it can lead to nerve damage, which progresses slowly over time.

Common neurological symptoms include:

Peripheral Neuropathy: A nerve disorder that causes numbness, tingling, or weakness, especially in the hands and feet.
Ataxia: The loss of full control of bodily movements, resulting in poor coordination, unsteady gait, and balance problems. This is a hallmark of severe, chronic deficiency.
Dysarthria: Difficulty with speech.
Absent Deep Tendon Reflexes: A loss of reflexes, such as the patellar (knee-jerk) reflex, is often an early sign.

Muscular Problems (Myopathy)

Muscle weakness, or myopathy, is another direct consequence of vitamin E deficiency. In severe cases, this muscular deterioration can extend to the heart muscle, a condition known as cardiomyopathy. Chronic deficiency can lead to significant muscle and nerve damage if left untreated.

Hemolytic Anemia

In this condition, red blood cells rupture and are destroyed, leading to a shortage of oxygen in the blood. Hemolytic anemia is a well-documented effect of vitamin E deficiency, particularly in vulnerable populations such as premature infants with low birth weight.

Vision and Eye Disorders

Vitamin E deficiency can weaken the photoreceptors and other cells in the eyes, leading to vision deterioration. Retinopathy, damage to the retina that can impair vision, and in severe cases, blindness, are known consequences. Premature infants are at risk of a specific eye disorder called retinopathy of prematurity.

Impaired Immune Function

Vitamin E plays a role in supporting the immune system. A deficiency can lead to a weakened immune response, making an individual more susceptible to infections and illnesses.

Causes of Deficiency: Beyond Diet

While a diet severely lacking in vitamin E is a contributing factor, deficiency is most commonly caused by underlying conditions that hinder the absorption of fat.

Fat Malabsorption Disorders: Since vitamin E is fat-soluble, disorders affecting fat absorption are the primary culprits in developed countries. These include:
- Cystic Fibrosis
- Crohn's Disease
- Chronic Pancreatitis
- Chronic Cholestatic Liver Disease
- Celiac Disease
Genetic Conditions: Rare, inherited disorders can also cause deficiency. The most notable is Ataxia with Vitamin E Deficiency (AVED), where a mutation prevents the body from properly retaining vitamin E.
Premature Infants: Due to low fat stores and an immature digestive tract, premature infants are particularly vulnerable to vitamin E deficiency.

A Comparison of Fat-Soluble Vitamins and Their Deficiencies

To understand the specific impacts of vitamin E deficiency, it's helpful to compare it with other fat-soluble vitamins (A, D, and K).


Feature	Vitamin E	Vitamin A	Vitamin D	Vitamin K
Primary Role	Antioxidant, protects cells from oxidative damage, supports immune function.	Vision, immune function, cell growth.	Bone health, calcium absorption, immune function.	Blood clotting, bone health.
Key Deficiency Symptoms	Ataxia, peripheral neuropathy, muscle weakness, hemolytic anemia, retinopathy.	Night blindness, dry eyes (xerophthalmia), poor immune function.	Rickets (children), osteomalacia (adults), muscle weakness.	Excessive bleeding, easy bruising, poor blood clotting.
Causes of Deficiency	Fat malabsorption, rare genetic disorders (AVED), prematurity.	Malnutrition, fat malabsorption.	Limited sun exposure, inadequate dietary intake.	Inadequate dietary intake, fat malabsorption, certain medications.

Treatment and Prevention

Treatment for vitamin E deficiency focuses on two main strategies: addressing the underlying cause and administering vitamin E supplementation.

Addressing the Underlying Cause: For conditions like cystic fibrosis or liver disease, managing the primary disorder is essential to improve fat and vitamin absorption.
Vitamin E Supplementation: High-dose oral supplementation is the standard treatment. For individuals with severe malabsorption, special water-soluble forms of vitamin E or intramuscular injections may be necessary. Lifelong supplementation may be required for those with persistent malabsorption or genetic disorders like AVED.
Dietary Prevention: For otherwise healthy individuals, ensuring a balanced diet rich in vitamin E can prevent deficiency. Excellent dietary sources include nuts (almonds, hazelnuts), seeds (sunflower seeds), vegetable oils (wheat germ oil, sunflower oil), and green leafy vegetables (spinach, broccoli).

Conclusion

To answer the question, "Which of the following diseases is caused due to the deficiency of vitamin E?", the key conditions are neurological disorders (including ataxia and peripheral neuropathy), muscle weakness (myopathy), vision problems (retinopathy), and hemolytic anemia. These issues primarily arise from fat malabsorption or rare genetic conditions, making dietary inadequacy an infrequent cause in healthy adults. Proper diagnosis and, most importantly, addressing the underlying cause are crucial for managing and treating vitamin E deficiency effectively through supplementation and dietary adjustments. Further research continues to explore the full spectrum of vitamin E's role and the long-term effects of deficiency.

Frequently Asked Questions

The primary diseases associated with vitamin E deficiency are neurological and neuromuscular disorders, such as ataxia (impaired coordination), peripheral neuropathy (nerve damage), muscle weakness, and hemolytic anemia.

No, a deficiency of vitamin E caused by a poor diet is very rare in healthy individuals. The most common causes are underlying medical conditions that affect fat absorption or rare genetic disorders.

Early signs of vitamin E deficiency can include loss of deep tendon reflexes, such as the patellar reflex, and developing issues with coordination and gait.

Conditions that cause poor fat absorption can lead to vitamin E deficiency, including cystic fibrosis, Crohn's disease, chronic liver disease, chronic pancreatitis, and celiac disease.

Vitamin E deficiency is diagnosed by a healthcare provider who considers the patient's symptoms and medical history. Blood tests are used to measure the level of vitamin E (alpha-tocopherol) to confirm the diagnosis.

Treatment involves high-dose vitamin E supplementation, usually administered orally. In severe cases or with severe malabsorption, larger doses or alternative administration methods, like injections, may be necessary.

Yes, a deficiency can damage light receptors in the eye, leading to vision deterioration. In severe, prolonged cases, it can lead to blindness.

Yes, premature infants are at a higher risk because they are born with lower vitamin E reserves and have immature digestive tracts, which can lead to hemolytic anemia and other issues.