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
- The COPD Foundation Clinical Guidelines1,4-6
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
- Screening should be considered in offspring and parents of individuals with AAT deficiency as well as distant relatives of individuals with AAT deficiency4,5
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.