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Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypisin Deficiency (A1AD) is a rare, inherited, genetic disorder where the body does not produce enough Alpha-1 Antitrypisin (AAT). AAT is a protein. Abnormal levels of AAT can eventually cause lung diseases like bronchiectasis and COPD, liver disease, or skin damage.

A1AD can be detected with a simple blood test. Other tests that may be ordered include breathing tests and imaging tests such as chest x-rays and CT scans. Early diagnosis can help prevent COPD from developing. If you have developed COPD in your 40’s or 50’s or someone in your family has been diagnosed with A1AD, ask your health care provider about AAT testing.

Alpha-1 Antitrypsin Deficiency Blood Test

If you have A1AD, your lungs are not fully protected and can be damaged more easily. Symptoms can appear in infancy, but many do not start until a person reaches middle age. Smoking, exposure to cigarette smoke or air pollution, and frequent infections put someone with A1AD at a higher risk of developing COPD. To learn more about COPD visit our COPD page or download the COPD Handbook.

The treatment of COPD symptoms caused by A1AD is the same as other causes of COPD. Read more about these in Lung Saskatchewan's COPD Handbook 

There is no cure for A1AD, however, in addition to standard COPD treatment, for those who qualify there is a lifelong treatment called augmentation therapy. This treatment involves raising the AAT protein to acceptable levels to slow down the damage being caused by the deficiency. Preventative treatments like quitting smoking and avoiding smoke, dust, and air pollution are important to prevent further damage.  

To learn more about Alpha-1 Antitrypsin Deficiency, visit Alpha-1 Canada.