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What Is Alpha-1-Antitrypsin Deficiency?

Alpha-1-antitrypsin (AAT) is a protein made by the liver. It protects the lungs from harmful effects of an enzyme named neutrophil elastase. In AAT deficiency, lungs can’t expand and contract well. Breathing is more difficult, and lung damage (emphysema) can result. The signs and symptoms of AAT deficiency commonly present initially in people 20 to 40 years old.

What Causes AAT Deficiency?

AAT deficiency is inherited, which means parents pass it to children. It’s one of the most common inherited disorders in caucasians. It’s not contagious.

What Are the Symptoms of AAT Deficiency?

Shortness of breath, being less able to exercise, coughing, sputum production, and wheezing are symptoms. The main manifestation is labored breathing that progressively gets worse. In some babies and children born with this disorder, it may also cause liver damage.

How Is AAT Deficiency Diagnosed?

The health care provider may suspect the diagnosis from the medical history and physical examination. X-rays and laboratory tests may be done to rule out similar disorders. A simple blood test that measures AAT will confirm the diagnosis. Chest X-rays and pulmonary function testing can help find out how severe emphysema is. Other blood tests may be done to check the liver function.

How Is AAT Deficiency Treated?

Treatment aims to prevent or slow progression of lung disease. Lungs should be protected from infections and inflammation. Immunizations should be given to prevent flu and pneumonia. Health care provider should provide treatment of lung infections at the first sign of infection. Avoid tobacco, smoke, noxious fumes, dust, and pollution. Stay fit by doing regular exercise. In severe cases, your health care provider may recommend replacing the enzyme that’s missing. A specialist in diseases of the lung can help in diagnosing and treatment of this disorder. Medicines such as inhalers may be used to help dilate bronchi (airways in the lung) and decrease lung inflammation. Oxygen and pulmonary rehabilitation programs may also help symptoms. In severe cases, lung surgery and transplantation are other possibilities.

DOs and DON’Ts in Managing AAT Deficiency:

  • DO understand that AAT deficiency is inherited. People need two genes from their parents. People with only one gene are called carriers and usually don’t have symptoms of emphysema.
  • DO understand that many cases aren’t diagnosed. Family members should be tested if there’s any history of lung disease, especially in a young person who doesn’t smoke.
  • DO get your shots (flu, pneumonia, tetanus). Prevention of infections is critical.
  • DO call your health care provider if you feel short of breath at rest or with little exertion. Call if you have wheezing, flu-like symptoms, or coughing up discolored phlegm.
  • DO call your health care provider if you need a referral to a lung specialist.
  • DO call your health care provider if you want genetic counseling.
  • DON’T smoke.
  • DON’T be exposed to environmental pollutants that can worsen breathing.
FOR MORE INFORMATION

Contact the following source:

  • Alpha One Foundation
    Tel: (877) 228-7321
    Website: http://www.alphaone.org
  • American Lung Association
    Tel: (800) LUNG-USA
    Website: http://www.lungusa.org

Copyright © 2016 by Saunders, an imprint of Elsevier, Inc.

Ferri’s Netter Patient Advisor