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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.

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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.

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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.

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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
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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