Which disease causes a lack of vitamin E?

November 14, 2025 •

3 min read

While dietary intake is rarely the cause in developed countries, vitamin E deficiency is most often the result of an underlying medical condition. A variety of diseases, both genetic and acquired, can impede the body's ability to absorb or utilize this essential fat-soluble antioxidant, leading to serious neurological and immune problems.

Quick Summary

Vitamin E deficiency primarily results from underlying genetic diseases or chronic fat malabsorption syndromes, affecting nerve function and overall health.

Key Points

Genetic Factors: Inherited disorders like Ataxia with Isolated Vitamin E Deficiency (AVED) and Abetalipoproteinemia are primary causes of vitamin E deficiency, disrupting its transport or absorption.
Fat Malabsorption Syndromes: Conditions that impair fat digestion, such as cystic fibrosis, Crohn's disease, and chronic pancreatitis, prevent the body from properly absorbing vitamin E.
Neurological Symptoms: Common symptoms of deficiency include progressive neurological problems like poor coordination (ataxia), muscle weakness, and numbness.
Early Diagnosis is Crucial: Lifelong supplementation, especially for genetic causes, can prevent or stabilize neurological damage if initiated early enough.
Blood Test Confirmation: A vitamin E deficiency is diagnosed via a blood test, which may include a ratio of vitamin E to total lipids for a more accurate assessment.
Treatment Tailored to Cause: Treatment involves vitamin E supplementation, with dosage and formulation varying depending on the specific underlying disease.

Genetic Diseases Causing Vitamin E Deficiency

Certain rare, inherited disorders directly interfere with the body's ability to utilize or transport vitamin E, regardless of dietary intake. These genetic conditions are often the most severe causes of deficiency.

Ataxia with Isolated Vitamin E Deficiency (AVED)

Ataxia with Isolated Vitamin E Deficiency (AVED) is a rare neurodegenerative disorder caused by mutations in the TTPA gene, which is vital for transporting vitamin E from the liver. A defective alpha-tocopherol transfer protein (αTTP) leads to very low circulating vitamin E levels. Symptoms resemble Friedreich's ataxia, appearing between ages 5 and 15, but AVED is treatable with high-dose vitamin E to prevent irreversible neurological damage.

Abetalipoproteinemia

Abetalipoproteinemia is a rare inherited metabolic disorder caused by mutations in the MTTP gene. It impairs the body's ability to absorb and transport fat and fat-soluble vitamins like E. Without the necessary lipoproteins, fat and vitamin E absorption from the gut is hindered. This results in progressive neurological issues and requires lifelong, high-dose vitamin E supplementation.

Fat Malabsorption Disorders

Since vitamin E is fat-soluble, diseases impairing fat digestion and absorption can cause a deficiency.

Cystic Fibrosis

Most individuals with cystic fibrosis (CF) have pancreatic insufficiency, lacking enzymes to break down food, causing severe fat malabsorption and poor absorption of fat-soluble vitamins like E. Vitamin E supplementation is standard in CF care.

Chronic Liver and Pancreatic Disease

Conditions like chronic cholestatic hepatobiliary disease reduce bile flow necessary for vitamin E absorption. Chronic pancreatitis also impairs fat-digesting enzyme production. Patients often need monitoring and supplementation of fat-soluble vitamins.

Inflammatory Bowel Diseases

Inflammatory bowel diseases (IBD) such as Crohn's disease damage the gut, interfering with nutrient absorption. Active IBD increases the risk of vitamin E deficiency due to malabsorption.

Signs and Symptoms of Vitamin E Deficiency

Due to vitamin E's role as an antioxidant, deficiency primarily causes neurological symptoms, which develop slowly.

Symptoms include:

Muscle weakness
Coordination and walking difficulties (ataxia)
Numbness or tingling (peripheral neuropathy)
Vision problems (retinopathy)
Loss of deep tendon reflexes
Weakened immune function

How to Diagnose and Treat a Deficiency

Diagnosis involves a physical exam, medical history, and a blood test for serum vitamin E levels. A vitamin E to total lipid ratio can provide a more accurate assessment.

Treatment is typically oral or injectable vitamin E supplementation. Dosage varies by cause. Genetic disorders require lifelong, high-dose treatment. Malabsorption cases may use water-soluble forms. Managing the underlying condition is also vital.

Disease Comparison: Genetic vs. Malabsorption


Feature	Genetic Conditions (AVED, Abetalipoproteinemia)	Fat Malabsorption Syndromes (CF, Crohn's)
Cause	Defect in protein responsible for vitamin E transport (TTPA gene) or fat metabolism (MTTP gene).	Impaired fat digestion or absorption due to chronic damage to the gastrointestinal tract or other digestive organs.
Symptom Onset	Typically begins in childhood or early adolescence.	Usually develops more slowly over time in adulthood as the underlying condition progresses.
Fat Absorption	May be normal (in AVED), or severely impaired (in abetalipoproteinemia).	Significantly impaired, leading to malabsorption of all fat-soluble vitamins (A, D, E, K).
Treatment Needs	Lifelong, high-dose vitamin E supplementation to bypass the transport defect.	Vitamin E supplementation adjusted to manage the underlying malabsorption. May require water-soluble formulations.
Prognosis	Generally stable with early, continuous treatment.	Dependent on the successful management of the underlying disease.

Conclusion

Vitamin E deficiency is usually caused by underlying medical conditions, not poor diet. Genetic disorders like AVED and abetalipoproteinemia hinder vitamin transport or absorption. Chronic fat malabsorption from conditions like cystic fibrosis, Crohn's, and liver or pancreatic disease also prevents adequate absorption. Early diagnosis and lifelong supplementation are key to preventing irreversible neurological issues.

For more detailed information on nutrient deficiencies caused by malabsorption, consult authoritative health resources, such as the NIH Office of Dietary Supplements.

Frequently Asked Questions

While it is possible, it is extremely rare in developed countries. The primary causes of vitamin E deficiency are underlying genetic diseases or fat malabsorption syndromes, not simply low dietary intake.

AVED is caused by a genetic defect in the protein that transports vitamin E from the liver, while abetalipoproteinemia is a defect in fat metabolism that prevents the absorption of dietary fats and fat-soluble vitamins, including E.

Cystic fibrosis often leads to pancreatic insufficiency, a condition where the body cannot produce enough enzymes to digest fats. Since vitamin E is a fat-soluble vitamin, this fat malabsorption prevents its proper absorption.

The earliest neurological signs can be subtle but often include progressive ataxia (poor coordination), clumsiness, loss of reflexes, and difficulty with balance.

Yes, it is treatable with vitamin E supplementation. For genetic disorders, treatment is lifelong. Early intervention is key, as neurological damage from long-term deficiency can be irreversible.

Yes, Crohn's disease can cause a deficiency due to chronic inflammation of the gastrointestinal tract, which can impair the body's ability to absorb fats and fat-soluble vitamins.

A doctor can diagnose a deficiency with a physical exam and a blood test that measures serum vitamin E levels. In some cases, a more accurate ratio of vitamin E to total lipids is measured.