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 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
References
- World Health Organization. Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397-415.
- Campos MA, Wanner A, Zhang G, et al. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-86.
- Global Initiative for Chronic Obstructive Lung Disease. Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. 2020 [Updated]. Available at: http://goldcopd.org/gold-2017-global-strategy-diagnosis-management-prevention-copd/.
- ATS, ERS. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
- Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult (Clinical Practice Guidelines). Chronic Obstr Pulm Dis (Miami). 2016;3(3):668-82.
- Vidal R, Blanco I, Casas F, et al. Guidelines for the diagnosis and management of alpha-1 antitrypsin deficiency. Arch Bronconeumol. 2006;42(12):645-59.
- DeMeo DL, Sandhaus RA, Barker AF, et al. Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax. 2007;62(9):806-13.
- The Alpha-1-Antitrypsin Deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. Am J Respir Crit Care Med. 1998;158(1):49-59.
Who acronym
AAT: alpha1 antitrypsin; ATS: American Thoracic Society; COPD: chronic obstructive pulmonary disease: ERS: European Respiratory Society.