There are 2 tests required to correctly diagnose alpha-1 antitrypsin deficiency.
The first test is called an alpha-1 antitrypsin (AAT) level, the second more informative test is called an AAT phenotype. An AAT level measures how much AAT protein is in the blood. However, a low AAT level does not provide a definitive diagnosis because AAT can be increased if you are sick or feeling unwell. The definitive test to diagnose AAT deficiency is called an AAT phenotype test.
Importantly, if you have a family history of AAT deficiency, talk to your family doctor and ask for both AAT level and AAT phenotype. Alpha-1 Foundation Ireland provide the test for free as part of a HSE-funded national targeted detection programme.
Other groups recommended for AAT deficiency testing include those with:
- COPD (regardless of age or smoking history)
- Severe asthma that does not respond to usual medications
- Liver disease of unknown cause
- A skin condition called panniculitis
- A low blood AAT level
For further details on how to get tested for Alpha-1 please contact:
Alpha-1 Foundation Ireland, RCSI Education & Research Centre, Beaumont Hospital, Dublin 9.
Phone: 01-8093871 or 01-8093749