PHYSICAL AND SOCIAL IMPACT OF ALPHA-1-ANTITRYPSIN DEFICIENCY - RESULTS OF A SURVEY

BACKGROUND Emphysema associated with alpha 1-antitrypsin deficiency ca n 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 a lpha 1-antitrypsin deficiency. A total of 414 questionnaires were retu rned; 398 respondents said they had alpha 1-antitrypsin deficiency, an d 300 said they had the PiZZ phenotype. Sixty-six respondents who said they had the disease did not know their phenotype. Among the 304 resp ondents with severe deficiency, the mean age at the time symptoms firs t appeared was 35.0 years, but the mean age when the disease was diagn osed was 41.3 years. Overall, 75.3% of respondents with severe deficie ncy reported at least one adverse effect: 44.4% retired early, and 19. 1% changed to a physically easier job. The duration of diagnostic dela y correlated with the degree of adverse psychosocial effects.