Question 1

What is Ataxia with Vitamin E Deficiency (AVED)?

Accepted Answer

Ataxia with Vitamin E Deficiency (AVED) is a rare inherited neurological disorder that causes progressive balance problems, coordination difficulties, and nerve damage. It is caused by mutations in the TTPA gene, which prevents the body from properly absorbing and utilizing vitamin E (alpha-tocopherol) despite normal dietary intake. The Vitamin E (Tocopherol) blood test is the most important test for diagnosing AVED, as it reveals severely low vitamin E levels characteristic of this condition.

Question 2

What causes Ataxia with Vitamin E Deficiency?

Accepted Answer

Ataxia with Vitamin E Deficiency is caused by mutations in the TTPA gene, which controls the production of alpha-tocopherol transfer protein. This protein is responsible for moving vitamin E from the liver into the bloodstream and throughout the body. When the TTPA gene is mutated, your body cannot properly absorb or distribute vitamin E even if you eat plenty of vitamin E-rich foods, leading to a severe deficiency that damages your nervous system over time.

Question 3

What is the best test for Ataxia with Vitamin E Deficiency?

Accepted Answer

The Vitamin E (Tocopherol) blood test is the most important test for diagnosing Ataxia with Vitamin E Deficiency because it directly measures the level of vitamin E in your blood. People with AVED typically have extremely low or undetectable vitamin E levels, even when their diet contains adequate amounts of this vitamin. This test helps distinguish AVED from other types of ataxia and confirms whether vitamin E deficiency is contributing to your neurological symptoms. If the blood test shows very low vitamin E levels along with symptoms like balance problems and coordination difficulties, your doctor may recommend genetic testing to confirm the TTPA gene mutation.

Question 4

When should I get tested for Ataxia with Vitamin E Deficiency?

Accepted Answer

You should get tested if you experience progressive balance problems, difficulty walking, loss of coordination, numbness or tingling in your hands and feet, or muscle weakness that gets worse over time. Testing is especially important if these symptoms started in childhood or early adulthood, if you have a family history of similar neurological problems, or if other causes of ataxia have been ruled out. Early diagnosis is critical because high-dose vitamin E supplementation can slow or even prevent the progression of neurological damage when started early.

Question 5

What are the symptoms of Ataxia with Vitamin E Deficiency?

Accepted Answer

The main symptoms include progressive difficulty with balance and coordination (ataxia), unsteady walking, loss of reflexes in the legs, numbness and tingling in the hands and feet (peripheral neuropathy), and muscle weakness. Many people also experience difficulty with fine motor skills like buttoning clothes or writing, slurred speech, abnormal eye movements, and loss of proprioception (the sense of where your body parts are in space). Symptoms typically begin between ages 5 and 15 but can appear later, and they gradually worsen without treatment.

Question 6

Who is at risk for Ataxia with Vitamin E Deficiency?

Accepted Answer

AVED is an autosomal recessive genetic condition, meaning you are at risk if both of your parents carry a mutation in the TTPA gene. If both parents are carriers, each child has a 25% chance of developing AVED. The condition is extremely rare in most populations but is more common in certain regions including North Africa, particularly Tunisia and Morocco, as well as parts of Italy and Japan. People with a family history of early-onset ataxia or unexplained neurological problems should consider genetic counseling to assess their risk.

Question 7

What happens if Ataxia with Vitamin E Deficiency is left untreated?

Accepted Answer

Without treatment, AVED causes progressive and irreversible damage to the nervous system, leading to severe disability. People may lose the ability to walk independently, develop significant weakness in their limbs, and experience worsening sensory problems that affect their ability to perform daily activities. Vision problems can worsen, and some people develop heart problems (cardiomyopathy) due to vitamin E deficiency affecting the heart muscle. Early diagnosis and treatment with high-dose vitamin E supplements can prevent or slow this progression, which is why timely testing is so important.

Question 8

Can Ataxia with Vitamin E Deficiency be diagnosed with a blood test?

Accepted Answer

Yes, a blood test measuring vitamin E (tocopherol) levels is the key diagnostic test for AVED. People with this condition have severely low or undetectable vitamin E levels in their blood, typically below 3 mg/L when normal levels are 5-20 mg/L. The blood test must be interpreted carefully because other conditions can also cause low vitamin E, such as severe malabsorption disorders or very poor nutrition. However, when very low vitamin E levels occur with characteristic neurological symptoms and no other explanation, AVED should be strongly suspected and confirmed with genetic testing for TTPA gene mutations.

Question 9

How is Ataxia with Vitamin E Deficiency treated?

Accepted Answer

The primary treatment is lifelong high-dose vitamin E supplementation, typically 800-1200 IU per day or even higher doses under medical supervision. When started early, before significant nerve damage occurs, vitamin E therapy can prevent progression of symptoms and may even improve some neurological problems. People who begin treatment after symptoms develop can often stabilize their condition and prevent further deterioration, though existing nerve damage may not be fully reversible. Regular monitoring of vitamin E levels is necessary to ensure adequate supplementation, and physical therapy can help maintain mobility and function.

Question 10

How can I prevent Ataxia with Vitamin E Deficiency?

Accepted Answer

Since AVED is a genetic condition, it cannot be prevented in individuals who inherit the TTPA gene mutations. However, if you have a family history of AVED or are a known carrier of the TTPA gene mutation, genetic counseling before having children can help you understand the risks and options. For people who are diagnosed with AVED, early initiation of high-dose vitamin E therapy is the most effective way to prevent progression of the neurological damage. Couples who are both carriers may consider prenatal genetic testing or preimplantation genetic diagnosis to prevent passing the condition to their children.

Question 11

What can I do at home to support Ataxia with Vitamin E Deficiency management?

Accepted Answer

While high-dose medical vitamin E supplementation is essential and cannot be replaced by dietary sources alone, you can support your overall health by eating vitamin E-rich foods like nuts, seeds, leafy greens, and vegetable oils. Physical therapy exercises at home can help maintain balance, coordination, and muscle strength. Using assistive devices like canes or walkers can improve safety and independence. Keep your living space free of tripping hazards, install grab bars in bathrooms, and use non-slip mats. Stay consistent with taking your prescribed vitamin E supplements and attend regular follow-up appointments to monitor your vitamin E levels and neurological function.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

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Ataxia with Vitamin E Deficiency Blood Test

What is Ataxia with Vitamin E Deficiency (AVED)?

What causes Ataxia with Vitamin E Deficiency?

What is the best test for Ataxia with Vitamin E Deficiency?

When should I get tested for Ataxia with Vitamin E Deficiency?

References

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