Who should be tested for alpha1-antitrypsin (AAT) deficiency?
- AAT deficiency is the major known genetic risk factor for COPD1
- It is estimated that up to 3% of patients diagnosed with COPD may have AAT deficiency2
- More than 90% of those with AAT deficiency are thought to be undiagnosed2
All COPD patients should be screened for AAT deficiency according to the following international professional organisations:
- The Global Initiative for Chronic Obstructive Pulmonary Disease (GOLD)3
- The World Health Organization (WHO)1,4-6
- The American Thoracic Society/European Respiratory Society (ATS/ERS)1,4-6
Several clinical presentations should lead to suspicion of AAT deficiency:6
|Classic presentation of AAT deficiency7||Actual presentation of AAT deficiency7|
Who list 2
Who else should be considered for screening?
The ATS/ERS and COPD Foundation strongly recommend additional AAT screening tests for:
- Siblings of AAT-deficient individuals4,5
In addition, the COPD Foundation Clinical Guidelines strongly recommend screening individuals with:
- Unexplained chronic liver disease5
- Necrotising panniculitis5
- Granulomatosis with polyangiitis5
- Unexplained bronchiectasis5
Screen the whole family
Don’t assume that COPD is only due to smoking; many AAT-deficient patients are either current or ex-smokers8,9
AAT: alpha1 antitrypsin; ATS: American Thoracic Society; COPD: chronic obstructive pulmonary disease: ERS: European Respiratory Society.