Alpha 1 Anti-Trypsin Deficiency

Definition

Alpha 1 anti-trypsin (AAT) deficiency is a rare genetic disorder that causes the enzyme AAT to not work well. It can cause lung and liver disease in children and adults.

Causes

AAT deficiency is an inherited disorder. It is passed from parents to children. This condition occurs when the liver does not make useful AAT. AAT is a protein that protects the lungs and other organs from damage. When functional AAT levels are too low, lung damage may occur.

People with AAT deficiency can also develop liver disease. AAT deficiency is one of the major causes of genetic liver disease in children. The liver makes an abnormal version of AAT protein that builds up in the liver. This blockage can damage liver cells. In some cases, severe liver damage can occur.

Risk Factors

If either of your parents have the gene for AAT deficiency, you are at risk of developing problems due to the disease. If both your parents carry the gene, you are at higher risk of having severe problems.

Symptoms

The first symptoms of the disease often appear in adulthood between the ages of 20-50 years. If you have any of these symptoms, do not assume it is due to AAT deficiency. These symptoms may be caused by other conditions. Tell the doctor if you have any of these:

  • Shortness of breath during mild activity
  • Coughing up sputum (mucus from deep in the lungs)
  • Wheezing
  • Weight loss
  • Emphysema (a lung disease caused by damage to the air sacs)
  • Panniculitis (raised red spots on the skin)

In addition, if the liver is affected in adults, the following symptoms may be present:

  • Itching
  • Jaundice (yellowing skin and/or whites of eyes)
  • Vomiting
  • Swollen abdomen
  • Abdominal pain

Symptoms in children can occur in the first weeks of life or later in childhood. If your child has any of these symptoms, do not assume it is due to AAT deficiency. These symptoms may be caused by other conditions. Tell the doctor if your child has any of these:

  • Infants:
  • Older children:
    • Fatigue
    • Poor appetite
    • Swollen abdomen

Diagnosis

Your doctor will ask about your symptoms and medical history and do a physical exam. Your doctor may refer you to a doctor who specializes in the lungs or liver, depending on the symptoms you are having.

Tests may include the following:

  • Blood tests—to examine if AAT levels in the blood are low
  • Chest x-ray —a test that uses radiation to take pictures of the lungs
  • Genetic testing—to identify the inherited change that causes AAT
  • Liver biopsy —a small piece of the liver is removed and examined for inflammation or scarring

Liver Biopsy
Placement of Liver Biopsy Needle
Copyright © Nucleus Medical Media, Inc.

Treatment

Talk with your doctor about the best treatment plan for you. Treatment options include the following:

Treatment for Lung Disease

Medications

Your doctor may prescribe medicines to boost the levels of AAT. These may be given weekly through an IV (needle) in your arm. If you have emphysema, your doctor may treat you with inhaled steroids and other medicines to improve your breathing.

Smoking Cessation

If you smoke, your doctor will work with you to help you stop. Smoking can increase the damage to your lungs.

Treatment for Liver Damage

There is no specific treatment for liver disease due to AAT deficiency. Treatment focuses on symptoms and preventing complications. Treatment may include:

  • Vitamin supplements (eg, E , D , and K )
  • Medicines to reduce itching and jaundice
  • Liver transplant (in rare cases)

Prevention

You cannot prevent AAT deficiency if you have inherited the condition. But there are steps you can take if you have AAT deficiency to reduce your chance of developing emphysema.

  • Quit smoking.
  • Avoid exposure to secondhand smoke.
  • Avoid exposure to air pollution or irritants.
  • Wear protective gear if exposed to irritants or toxins at work.

Revisions

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This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

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