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Minerva Respiratory Medicine 2022 June;61(2):63-70

DOI: 10.23736/S2784-8477.22.01995-7

Copyright © 2022 EDIZIONI MINERVA MEDICA

language: English

Diagnosis and management of patients with α1-antitrypsin deficiency: an Italian perspective

Stefano ALIBERTI 1, 2 , Francesco AMATI 1, 2, Anna ANNUNZIATA 3, Francesco ARCOLEO 4, Paolo BADERNA 5, Francesco BINI 6, Chiara F. CARRARO 7, Leonardo IANNACCI 8, Salvatore LO CICERO 9, Giovanni PASSALACQUA 10, Davide PILONI 11, Giulia SCIOSCIA 12, Christine SEEBACHER 13, Elisabetta SORTINO 14, Antonella SPACONE 15, Andrea VIANELLO 16

1 Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy; 2 IRCCS Humanitas Clinic, Rozzano, Milan, Italy; 3 Unit of Physiopathology and Respiratory Rehabilitation, Monaldi Hospital, Naples, Italy; 4 Unit of Clinical Pathology, AOR Villa Sofia-Cervello of Palermo, Palermo, Italy; 5 Hospital of Saluzzo, SSD Fisiopatologia Respiratoria - ASL CN1, Saluzzo, Cuneo, Italy; 6 Unit of Pulmonology, Department of Internal Medicine, ASST-Rhodense Hospital, Garbagnate Milanese, Milan, Italy; 7 Unit of Respiratory Medicine, San Giovanni Bosco Hospital, Turin, Italy; 8 Unit of Respiratory Medicine, ASST Valtellina Alto Lario, E. Morelli Hospital, Sondalo, Sondrio, Italy; 9 Unit of Respiratory Medicine, General Hospital Niguarda, Milan, Italy; 10 Unit of Respiratory Desease, Papardo General Hospital, Messina, Italy; 11 Unit of Respiratory Diseases, IRCCS San Matteo Polyclinic Foundation, Pavia, Italy; 12 Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy; 13 Department of Pneumology, General Hospital of Bolzano, Bolzano, Italy; 14 Unit of Respiratory Medicine, Hospital of Cagliari, Cagliari, Italy; 15 Unit of Respiratory Medicine, Hospital of Pescara, Pescara, Italy; 16 Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy



BACKGROUND: European Respiratory Society recommendations on the management of patients with α1-Antitrypsin deficiency (AATD) suggest organizing the care of patients in reference centers. However, 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.


KEY WORDS: Alpha-1 antitrypsin deficiency; Delphi technique; Guideline

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