Background: Emphysema associated with alpha 1-antitrypsin deficiency can impose serious impairment.
Objective: To gather information about the impact of severe alpha 1-antitrypsin deficiency.
Methods: Mail survey, descriptive statistics.
Results: We sent a survey to 1730 subscribers to a national newsletter, 850 of whom had previously stated they had alpha 1-antitrypsin deficiency. A total of 414 questionnaires were returned; 398 respondents said they had alpha 1-antitrypsin deficiency, and 300 said they had the PiZZ phenotype. Sixty-six respondents who said they had the disease did not know their phenotype. Among the 304 respondents with severe deficiency, the mean age at the time symptoms first appeared was 35.0 years, but the mean age when the disease was diagnosed was 41.3 years. Overall, 75.3% of respondents with severe deficiency reported at least one adverse effect: 44.4% retired early, and 19.1% changed to a physically easier job. The duration of diagnostic delay correlated with the degree of adverse psychosocial effects.
Conclusions: Alpha 1-antitrypsin deficiency frequently escapes diagnosis despite many medical encounters. Affected individuals are often unaware of basic details of their disease. Many patients report adverse psychosocial effects. Delay in diagnosing this disease is associated with adverse psychosocial effects.