Small airway evaluation in three subjects with alpha-1 antitrypsin deficiency without diagnosed lung disease

We describe three cases of female subjects (aged 16, 44 and 41 years) with no respiratory symptoms, who have alpha-1 antitripsyn mutation (PiSZ, PiZZ and PiZZ) and who performed traditional pulmonary function tests and the single breath nitrogen washout test. They still did not have chronic obstructive pulmonary disease (COPD) or any identifiable change in traditional pulmonary function tests but already have change in nitrogen washout tests. Alpha-1 antitrypsin deficiency is a genetic disorder associated with early-onset COPD. There is evidence that although patients who have well-preserved FEV₁ may already have signs of emphysema associated with symptoms. Therefore, the nitrogen washout test is considered to have more sensitive outcomes than other pulmonary function tests for early investigation of small airways disease and could allow the monitoring pulmonary function and evaluating of therapeutic decision.