Which disease is due to lack of vitamin E?

December 18, 2025 •

2 min read

While dietary deficiency is extremely rare in healthy individuals, one specific and severe disease due to lack of vitamin E is Ataxia with Vitamin E Deficiency (AVED), a rare genetic disorder. This condition impairs the body's ability to properly use the vitamin, leading to progressive neurological problems affecting movement and coordination.

Quick Summary

Several diseases can be caused by low vitamin E levels, most commonly due to underlying genetic or fat malabsorption disorders. Symptoms include neurological problems, muscle weakness, and vision issues, with the rare genetic disorder AVED being a key example.

Key Points

Genetic Defect: The disease Ataxia with Vitamin E Deficiency (AVED) is caused by a genetic mutation, not simply a poor diet.
Malabsorption Causes: In most developed countries, low vitamin E levels are secondary to disorders that cause fat malabsorption, like cystic fibrosis or Crohn's disease.
Neurological Impact: Vitamin E deficiency primarily damages the nervous system, leading to coordination problems (ataxia), muscle weakness, and peripheral neuropathy.
Ocular Issues: Prolonged deficiency can result in vision problems, including retinopathy and potential blindness.
Infant Risks: Premature infants are particularly vulnerable and can develop hemolytic anemia and retinopathy of prematurity due to low vitamin E reserves.
Antioxidant Role: Vitamin E is a crucial antioxidant that protects cells, especially nerve cells, from oxidative stress and damage caused by free radicals.
Treatment: Treatment for deficiency typically involves high-dose vitamin E supplementation, along with managing the underlying cause in secondary cases.

Ataxia with Vitamin E Deficiency (AVED): A Primary Genetic Cause

Ataxia with Vitamin E Deficiency (AVED) is a notable disease directly caused by a genetic mutation affecting vitamin E metabolism. This inherited disorder is linked to the TTPA gene, which influences the α-tocopherol transfer protein (α-TTP) in the liver responsible for distributing vitamin E throughout the body. A defect in this process leads to significantly low vitamin E levels, particularly impacting the nervous system, which is susceptible to oxidative damage.

How AVED Affects the Body

AVED results in a progressive neurodegenerative condition. Symptoms typically manifest between the ages of 5 and 15 and worsen over time without treatment. Key symptoms include:

Progressive Ataxia
Loss of Reflexes (Areflexia)
Sensory Loss (Peripheral Neuropathy)
Speech Difficulties (Dysarthria)
Vision Problems (Retinitis Pigmentosa)
Muscle Weakness

Malabsorption Syndromes and Secondary Vitamin E Deficiency

Dietary vitamin E deficiency is uncommon in developed countries. More frequently, low vitamin E levels are a consequence of medical conditions that impair fat absorption, as vitamin E is fat-soluble.

Disorders leading to malabsorption:

Cystic Fibrosis
Crohn's Disease and other Inflammatory Bowel Diseases
Chronic Cholestatic Liver Disease
Abetalipoproteinemia
Chronic Pancreatitis

Comparison of Primary (AVED) and Secondary Vitamin E Deficiency

Understanding the difference between genetic and malabsorption-related vitamin E deficiency is important:


Feature	Ataxia with Vitamin E Deficiency (AVED)	Secondary Vitamin E Deficiency
Cause	Genetic mutation in the TTPA gene.	Underlying fat malabsorption disorder.
Onset	Typically childhood (ages 5-15).	Varies depending on the underlying condition.
Symptom Progression	Progressive neurological decline.	Symptoms may stabilize or improve with treatment of the primary disorder.
Other Deficiencies	Rare.	Common (affecting vitamins A, D, E, K).
Treatment	High-dose vitamin E supplementation.	Addressing the underlying disorder and supplementation.
Prevalence	Extremely rare.	More common in developed countries.

Hemolytic Anemia and Other Consequences

Severe vitamin E deficiency can also lead to hemolytic anemia, the premature destruction of red blood cells. Vitamin E's antioxidant role protects cell membranes, and without it, red blood cells are vulnerable. This is a particular risk for premature infants. Deficiency in newborns can also cause retinopathy of prematurity. In severe, prolonged cases in adults, complications can include vision loss and potential cardiac or cognitive issues.

The Role of Vitamin E and its Antioxidant Function

Vitamin E acts as a crucial antioxidant, shielding cells from damage by free radicals, which cause oxidative stress. The nervous system is particularly sensitive to this damage. Vitamin E's protective function is essential for nervous system health. Deficiency compromises this protection, contributing to neurological damage in conditions like AVED.

Conclusion

The most recognized disease directly linked to a lack of vitamin E is the genetic disorder Ataxia with Vitamin E Deficiency (AVED), which hinders the body's ability to utilize the vitamin. However, in many cases, low vitamin E is secondary to conditions causing fat malabsorption. Severe deficiency, regardless of the cause, can result in various symptoms, including neurological issues, muscle weakness, vision problems, and hemolytic anemia. Treatment focuses on addressing the root cause and vitamin E supplementation.

Frequently Asked Questions

The most specific disease caused by a genetic lack of vitamin E is Ataxia with Vitamin E Deficiency (AVED), a rare inherited disorder that causes progressive neurological damage.

While theoretically possible, a vitamin E deficiency caused by poor diet alone is extremely rare in developed countries. It is most often linked to underlying medical conditions.

Conditions that cause poor fat absorption, such as cystic fibrosis, Crohn's disease, chronic liver disease, chronic pancreatitis, and abetalipoproteinemia, are common causes of secondary vitamin E deficiency.

Early signs often include neurological symptoms such as impaired reflexes and coordination, muscle weakness, and numbness or tingling (peripheral neuropathy).

Yes, premature, low-birth-weight infants are at higher risk of vitamin E deficiency. This can lead to serious conditions like hemolytic anemia and retinopathy of prematurity.

A doctor can diagnose vitamin E deficiency through a physical examination to check for neurological symptoms and blood tests to measure serum vitamin E levels.

In its early stages, vitamin E deficiency is often reversible with high-dose vitamin E supplementation. However, long-term, severe deficiency can cause irreversible damage.