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 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
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.
- Marciniuk DD, Hernandez P, Balter M, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012;19(2):109-16.
- 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.