Diagnosis and management of patients with alpha 1-antitrypsin deficiency: an Italian perspective

BACKGROUND: European Respiratory Society recommendations on the management of patients with alpha(1)-Antitrypsin deficiency (AATD) suggest organizing the care of patients in reference centers. IIowever, AATD remains an underdiagnosed and undertreated condition and initiatives are required to support disease awareness, encourage screening of individuals with risk factors and homogenize treatment approach.METHODS: In order to reach this last goal, Italian experts on the management of these patients were invited to reach a consensus through a Delphi process on different aspects of diagnosis and management of AATD. The working groups generated a list of statements on screening, diagnosis, treatment and follow-up of patients with AATD.RESULTS: The list of final 14 statements was subsequently sent to 80 Italian medical doctors who were managing patients with AATD and who were asked to grade the clinical relevance of each statement anonymously using a five-level scale. Level of agreement for all the final 14 statements was more than 80% and was 100% for 9 of them.CONCLUSIONS: This study has specific implications for AATD management, which might include attempts to harmonize the various guidelines recommendations. Moreover, our findings also highlighted the high level of concordance regarding the importance of these statements for the experts involved in the survey.