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Definition

What is abetalipoproteinemia?

Abetalipoproteinemia is an inherited disorder that influences the absorption ability of dietary fats, cholesterol, and fat-soluble vitamins. People who are affected by this disorder are not able to produce certain lipoproteins, which play a major role in carrying fats and fat-like substances (such as cholesterol) in the blood. Specifically, people with abetalipoproteinemia are missing a group of lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins can cause severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the bloodstream. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body’s cells and tissues, particularly nerve cells and tissues in the eye.

How common is abetalipoproteinemia?

Abetalipoproteinemia is considered to be a rare disorder.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of abetalipoproteinemia?

There are a great number of signs and symptoms of abetalipoproteinemia. The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include:

  • Failure to gain weight and grow at the expected rate (failure to thrive)
  • Diarrhea
  • Abnormal star-shaped red blood cells (acanthocytosis)
  • Fatty, foul-smelling stools (steatorrhea)

Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Disturbances in nerve function may cause affected people to eventually develop poor muscle coordination and difficulty with balance and movement (ataxia).

Individuals with this condition may also develop an eye disorder called retinitis pigmentosa, in which progressive degeneration of the light-sensitive layer (retina) at the back of the eye can cause vision loss. Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially a deficiency of vitamin E.

When should I see my doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes abetalipoproteinemia?

The exact cause of abetalipoproteinemia is mutations in the MTTP gene. MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are essential for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and the efficient transport of these substances in the bloodstream.

Most of the mutations in the MTTP gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. A lack of beta-lipoproteins causes the nutritional and neurological problems seen in people with abetalipoproteinemia.

Risk factors

What increases my risk for abetalipoproteinemia?

You may have higher risks for this condition if you are experiencing these following conditions:

  • Having family history of abetalipoproteinemia

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is abetalipoproteinemia diagnosed?

If your doctor suspects that you experience abetalipoproteinemia, he/she will perform an exam thoroughly to determine this condition

Then he/she will order some tests such as:

  • The initial workup of abetalipoproteinemia typically consists of stool sampling, a blood smear, and a fasting lipid panel though these tests are not confirmatory.
  • As the disease is rare, though a genetics test is necessary for diagnosis, it is generally not done initially

How is abetalipoproteinemia treated?

Treatment normally consists of rigorous dieting, involving massive amounts of vitamin E.

Vitamin E enables the body to restore and produce lipoproteins, which people with abetalipoprotenimia usually lack. Vitamin E also helps keep skin and eyes healthy; studies show that many affected males will have vision problems later on in life. Developmental coordination disorder and muscle weakness are usually treated with physiotherapy or occupational therapy. Dietary restriction of triglycerides has also been useful.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage abetalipoproteinemia?

It is believed that patients might also be advised to consume a nutritious diet and get regular exercise to inhibit further complication.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: June 26, 2017 | Last Modified: June 26, 2017

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