What disease is caused by lack of vitamin E?

January 11, 2026 •

4 min read

Although severe vitamin E deficiency is rare, it is most often caused by underlying disorders affecting nutrient absorption, rather than a poor diet alone. The resulting conditions primarily impact the central nervous system, leading to a progressive deterioration of motor control, reflexes, and vision.

Quick Summary

A severe lack of vitamin E can cause serious neurological diseases, most notably ataxia, a disorder that affects coordination and balance. This deficiency is usually a secondary effect of genetic conditions or fat malabsorption disorders, not insufficient dietary intake.

Key Points

Primary Disease: A lack of vitamin E can cause a neurodegenerative disease known as ataxia, impacting coordination and motor control due to nerve cell damage.
Genetic Cause (AVED): Ataxia with Vitamin E Deficiency (AVED) is a rare, inherited disorder where a genetic mutation prevents the body from utilizing and distributing vitamin E correctly.
Secondary Cause (Malabsorption): In developed countries, deficiency is more often a result of conditions that impair fat absorption, such as cystic fibrosis, Crohn's disease, or liver disease.
Distinct Symptoms: Symptoms are primarily neurological and can progress from mild reflexes issues to severe ataxia, muscle weakness, and impaired vision over time.
Risk for Infants: Premature, low-birth-weight infants are at increased risk due to low vitamin E reserves at birth, potentially leading to hemolytic anemia.
Treatment Focus: Management involves addressing the root cause, whether genetic or malabsorption, and providing high-dose vitamin E supplements, sometimes through injection for severe cases.

The Core Issue: Neurological Impact of Vitamin E Deficiency

Vitamin E is a crucial fat-soluble antioxidant that protects cell membranes, especially nerve cells, from damage caused by harmful molecules called free radicals. When the body is unable to absorb or utilize this vitamin effectively, nerve cells, particularly the highly sensitive Purkinje neurons in the cerebellum, are compromised and eventually break down. This neural damage is the direct cause of the primary disease associated with vitamin E deficiency: a form of progressive neurodegenerative disorder known as ataxia.

Ataxia with Vitamin E Deficiency (AVED)

Ataxia with vitamin E deficiency (AVED) is a rare, inherited neurodegenerative disease that arises from the body's inability to transport and use vitamin E. The liver produces a protein, alpha-tocopherol transfer protein (alpha-TTP), which is responsible for distributing vitamin E to the body's cells. In individuals with AVED, a mutation in the TTPA gene impairs this protein's function, causing very low levels of vitamin E in the bloodstream and tissues, regardless of dietary intake. The neurological symptoms can start early in life, often between the ages of 5 and 15, and worsen over time.

Common symptoms of AVED include:

Difficulty with coordination (ataxia): Manifests as an unsteady, clumsy gait.
Peripheral neuropathy: Numbness, tingling, or weakness due to damage to the peripheral nerves.
Muscle weakness (myopathy): A general loss of muscle strength.
Retinopathy: An eye disorder that can lead to vision loss.
Dysarthria: Slurred or difficult-to-understand speech.

Secondary Vitamin E Deficiency

While AVED is a specific genetic disease, vitamin E deficiency can also occur as a secondary effect of various fat malabsorption disorders. Since vitamin E is fat-soluble, its absorption depends on dietary fat and a healthy digestive system. Chronic conditions that interfere with fat absorption can eventually deplete the body's vitamin E stores, leading to neurological issues.

Conditions that cause secondary vitamin E deficiency include:

Cystic Fibrosis: A genetic disorder causing a buildup of thick, sticky mucus that clogs organs, including the pancreas, which disrupts the release of enzymes needed for fat absorption.
Crohn's Disease and Celiac Disease: Inflammatory bowel diseases that damage the intestinal lining, impairing nutrient absorption.
Chronic Cholestatic Liver Disease: Decreased bile flow from the liver hinders the breakdown of fats necessary for vitamin E absorption.
Abetalipoproteinemia: A rare inherited disorder that causes severe malabsorption of dietary fats, leading to extremely low vitamin E levels and a distinct neurological and retinal phenotype.

Other Health Impacts of Vitamin E Deficiency

Beyond neurological damage, a lack of vitamin E can lead to other systemic issues. One of the most notable is hemolytic anemia, a condition in which red blood cells rupture and are destroyed faster than they can be made. This is a particular concern in premature infants with very low birth weights, who are born with lower vitamin E reserves because less of the vitamin crosses the placenta during development. Severe, prolonged deficiency in infants can also lead to bleeding in the brain (hemorrhage) and retinopathy of prematurity.

Comparison of Primary vs. Secondary Deficiency


Feature	Ataxia with Vitamin E Deficiency (AVED)	Secondary Vitamin E Deficiency	Abetalipoproteinemia
Cause	Genetic mutation in the TTPA gene, affecting vitamin E transfer protein.	Underlying fat malabsorption disorder (e.g., cystic fibrosis, Crohn's).	Genetic mutation causing inability to produce lipoproteins for fat absorption.
Primary Problem	Defective transport of vitamin E within the body.	Impaired absorption of dietary fat and fat-soluble vitamins.	Severe inability to absorb dietary fat and fat-soluble vitamins.
Typical Onset	Childhood, often between 5 and 15 years.	Can be early childhood, depending on the underlying condition.	Early childhood, typically within the first decade of life.
Key Symptoms	Progressive ataxia, neuropathy, muscle weakness, dysarthria, retinopathy.	Similar neurological symptoms (ataxia, myopathy) but can involve other vitamin deficiencies.	Neuropathy, retinopathy (leading to blindness), and muscle weakness.
Treatment Dosage	Very high oral doses of vitamin E supplementation.	Dosage depends on severity and underlying condition; can be oral or injected.	Extremely high doses of vitamin E required, often 100-200 mg/kg per day.

Diagnosis and Management of Vitamin E Deficiency

Diagnosing vitamin E deficiency typically involves a physical examination to identify characteristic neurological symptoms and blood tests to measure serum alpha-tocopherol levels. In adults, a low ratio of serum alpha-tocopherol to lipids is the most accurate indicator. For individuals with a family history or symptoms suggesting a genetic link, genetic testing for AVED or abetalipoproteinemia may be necessary.

Treatment for vitamin E deficiency is focused on correcting the vitamin levels and addressing the root cause. It almost always involves high-dose vitamin E supplementation, administered orally or, in severe cases of malabsorption, via intramuscular injection. Dietary modifications, including consuming foods rich in vitamin E, are also recommended, but are often insufficient to treat deficiencies caused by absorption issues. For many with genetic or chronic malabsorption disorders, lifelong supplementation is required.

Conclusion: The Importance of Underlying Cause Identification

What disease is caused by lack of vitamin E? It's predominantly a progressive neurological disorder characterized by ataxia and other nerve-related issues. The key distinction is between rare genetic conditions like AVED and more common scenarios where vitamin E deficiency arises secondary to fat malabsorption disorders such as cystic fibrosis, liver disease, or inflammatory bowel diseases. While supplementation is the primary treatment, the approach must be tailored to the specific cause. Due to the rare nature of the deficiency in the general population, a proper diagnosis by a healthcare provider is essential to uncover any underlying medical conditions and ensure effective management. For more information, consult reliable health resources like the MedlinePlus medical encyclopedia.

Frequently Asked Questions

In countries with low food insecurity, vitamin E deficiency is extremely rare and almost never caused by diet alone. It is far more likely to be the result of a fat malabsorption disorder or a genetic condition.

Doctors diagnose the condition by performing a physical exam to look for symptoms like poor coordination and weak reflexes. They then confirm the diagnosis with a blood test to measure serum alpha-tocopherol levels.

Early signs often include mild neurological issues, such as hyporeflexia (diminished reflexes), decreased night vision, and mild muscle weakness. These can progress over time if untreated.

Yes, taking vitamin E supplements is the primary treatment. The amount and method of supplementation depend on the cause and severity of the deficiency. In some cases, supplements can significantly improve outcomes, but long-term use may be necessary.

Several conditions can cause fat malabsorption, which in turn leads to vitamin E deficiency. These include cystic fibrosis, Crohn's disease, celiac disease, chronic liver disease, and pancreatitis.

As a potent antioxidant, vitamin E protects the body's cells from oxidative damage caused by free radicals. It is also important for immune function, healthy vision, and proper nerve signaling.

Yes, vitamin E is found in nuts, seeds, and vegetable oils, such as wheat germ and sunflower oil. It is also present in leafy green vegetables like spinach and broccoli, and certain fruits like avocados and mangoes.