Alpha-1 Antitrypsin (AAT) Deficiency is a hereditary condition that causes your body to lack or produce low levels of this protective protein that protects the lungs. If inherited, AAT deficiency can lead to chronic obstructive pulmonary disease (COPD).
Symptoms of AAT Deficiency
- Shortness of breath
- Cough and/or sputum production
- Wheezing and recurring chest colds
- Jaundice (yellowing of the skin)
- Abdominal swelling and/or gastrointestinal bleeding
- Unexplained liver problems
Who should be tested?
All people with a diagnosis of COPD should be tested for AAT deficiency. In addition, people with a diagnosis of asthma whose breathing tests do not return to normal after inhaling a bronchodilator should be tested for AAT deficiency. People with a family history of AAT deficiency, emphysema or liver disease at an early age, adult-onset asthma, or recurrent bronchitis should also be considered for testing. Testing is quick, easy, and highly accurate with a simple finger stick.
Treatment for AAT Deficiency
The highest priority for those with AAT deficiency is to quit smoking. Treatment should include scheduled flu and pneumonia vaccines and continued use of prescribed inhaled medications to improve lung function. Your provider may recommend a pulmonary rehabilitation program. Additional therapies may be needed to decrease loss of lung function. Your health care provider will discuss treatment options for AAT with you if you are found to be AAT deficient. A lung transplant may also be an option for those with severe disease.
Talking with your family
People with this condition should talk with their family members and encourage them to be tested. Although others may not test positive for this disease, they may be carriers. Genetic and psychological counseling can provide knowledge and support for those families who have been affected by the disease.
Recommendations for those with AAT Deficiency
- Avoid all of the following: tobacco smoke, environmental and work pollutants, wood-burning stoves, fumes from household cleaning products, and paints and/or other toxic agents
- Maintain regular medical appointments
- Take medication as directed and listen advice from your healthcare provider
- Stay current with immunizations (vaccines)
- Follow a good nutrition and exercise program
- Reduce alcohol use
- Develop a stress management program
- Avoid exposure to people who are sick
- Participate in pulmonary rehabilitation if recommended by your care provider