Abetalipoproteinemia

Patient Education

What Is Abetalipoproteinemia?

Abetalipoproteinemia (ABL) is an inherited condition that prevents the body from completely absorbing certain dietary fats. Without treatment, it can cause vitamin deficiencies that may have long term effects on your health. It is caused by a defective gene. Therefore, it runs in families. It is not contagious.

What Causes Abetalipoproteinemia?

ABL is caused by problems with a gene that combine fats with protein to make something called a lipoprotein. ABL is a recessive condition.

What are Symptoms of Abetalipoproteinemia?

• abnormal growth patterns in infants - developmental delays or “failure to thrive”

• curving of the spine

• problems with balance and dexterity

• problems with coordination

• muscle weakness

• protruding abdomen

• problems with vision

• speech disorders, slurring of speech

• fatty, frothy, foul-smelling, or otherwise irregular stools

How to Diagnose Abetalipoproteinemia?

Tests for deficiencies in vitamins A, D, E, and K are common. Doctors may also test your levels of apolipoprotein B. Apolipoprotein B metabolism can be altered in people with ABL and other lipid disorders.

• Eye exams to diagnose vision problems.

• Stool samples to see if your stool shows any of the classic signs of the condition.

• Electromyography to test your muscle activity and see if it has been affected by the condition.

What is Treatment of Abetalipoproteinemia?

ABL is usually treated with high doses of fat-soluble vitamins. You may also receive other supplements, including linoleic acid - an omega-6 fatty acid.

Diet can be an important part of treating ABL. Your doctor may recommend speaking to a nutritionist who can help you lower your fat intake. This might involve changing to skim milk or eating smaller servings of meat and other fatty foods.