Objective: Alpha1-antitrypsin deficiency is a rare hereditary disorder. Deficient patients are at a higher risk to develop lung emphysema at an early age. The alpha1-antitrypsin registry was founded on 1996 to get new insights into the pathogenesis of the disease and to develop new therapeutic strategies. In this study the epidemiological and clinical findings of the Austrian alpha1-antitrypsin deficient patients are presented.
Material and methods: A total of 139 patients with severe alpha1-antitrypsin deficiency, identified by phenol- and genotyping, were evaluated retrospectively by their physicians with the help of a questionnaire.
Results: Most patients were smokers or ex-smokers (71.9%) who developed symptoms in their fourth decade. The mean duration between the onset of symptoms and the final diagnosis was 6.5 years. About 25% of the evaluated patients were unable to practice their profession because of their illness.
Conclusion: Alpha1-antitrypsin deficiency is a rare condition with delayed diagnosis. Because of the benefit of an early diagnosis further effort should be put towards early detection.