Alpha 1 Antitrypsin Deficiency

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.