Patients with AAT deficiency usually present with the following symptoms:1
- Shortness of breath
- Decreased exercise capacity
- Chronic cough
- Frequent respiratory infections
The symptoms of AAT deficiency are similar to those of other pulmonary conditions, in particular emphysema and asthma. The similarity in the clinical presentations contributes to the fact that AAT-deficiency emphysema is frequently under-recognized by physicians. It is estimated that only 10% of AAT deficient patients have been identified.2
- Adapted from the American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with AAT deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
- Silverman EK, Sandhaus RA. Alpha1-Antitrypsin Deficiency. N Engl J Med. 2009;360:2749-57.