European pathways of care in Alpha-1 Antitrypsin deficiency

Authors: Chorostowska-Wynimko, J; Koczulla, AR; Sucena, M.

Affiliations: Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, ERN-LUNG Expert Center for Alfa-Antitrypsin Deficiency, European Alpha-1 Research Collaboration (EARCO), Warsaw, Poland. Institute for Pulmonary Rehabilitation Research, Schoen Klinik Berchtesgadener Land, German Network Alpha-1 Expert Centre and Lead for Germany, Schoenau am Koenigssee, Germany. Department of Pulmonary Rehabilitation, Philipps-University of Marburg, German Centre for Lung Research (DZL), Marburg, Germany. Teaching Hospital, Paracelsus Medical University, Salzburg, Austria. Pulmonology Department, Centro Hospitalar Universitario ´ de Santo Antonio, ´ European Alpha-1 Research Collaboration (EARCO), Portuguese EARCO, Porto, Portugal

Publication: Respiratory Medicine. 2023. 220. 107450.

Abstract: BACKGROUND: Despite initiatives to improve awareness and treatment of alpha-1 antitrypsin deficiency (AATD), country-level processes for AATD management remain unclear. OBJECTIVES: We conducted a pan-European physician survey to clarify the pathways for AATD care. METHOD: Professionals involved in AATD diagnosis and/or management completed a web-based survey on the detection, evaluation, monitoring and treatment of AATD and the utilization of European reference network centers for rare lung diseases (ERN-LUNG). RESULTS: Surveys were completed by 166 physicians from 18 European countries. Overall, 25 % of respondents were unaware of local specific AATD testing guidelines, and most (72 %) had referred.