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Testing for AAT Deficiency
Early diagnosis of AAT deficiency* is important because, with appropriate therapy and lifestyle modifications, the progression of lung disease may be slowed.1
*Also known as Alpha-1, alpha-1 antitrypsin deficiency, AATD, A1-PI deficiency, alpha-1 proteinase deficiency, A1AD, or hereditary or genetic emphysema.
Who Should Be Tested
"It is recommended that all subjects with COPD or asthma characterized by incompletely reversible air flow obstruction should be tested once for AAT deficiency."1
—American Thoracic Society/European Respiratory Society (ATS/ERS)
Current recommendations in the ATS/ERS Statement1 support testing of all your patients with:
- Early-onset emphysema (age 45 years or less, regardless of smoking history)
- Family members of known alpha-1 antitrypsin-deficient patients
- Dyspnea and cough occurring in multiple family members in same or different generations
- Emphysema in the absence of a recognized risk factor (smoking, occupational dust exposure, etc.)
- Emphysema with prominent basilar hyperlucency
- Otherwise unexplained liver disease
- All subjects with chronic obstructive pulmonary disease (COPD)
- Bronchiectasis without evident etiology
- Asthma with spirometry that fails to return to normal with therapy
- Necrotizing panniculitis
- Anti-proteinase 3-positive vasculitis (C-ANCA [anti-neutrophil cytoplasmic antibody]-positive vasculitis)
- Family history of any of the following: emphysema, bronchiectasis, liver disease, or panniculitis
References
- 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; 168:818-900.
