University of Birmingham Diagnosis and management of Alpha 1 Antitrypsin deficiency in Europe

Despite recent improvements, α1-antitrypsin deficiency (AATD) remains a rarely diagnosed and treated condition. To assess the variability of AATD diagnosis/treatment in Europe, and to evaluate clinicians’ views on methods to optimise management, specialist AATD clinicians were invited to complete a web-based survey. Surveys were completed by 15 physicians from 14 centres in 13 European countries. All respondents perceived the AATD diagnosis rate to be low in their country; 77% of physicians believed that ∼15% of cases were diagnosed. Low awareness was perceived as the greatest barrier to diagnosis. Spirometry was considered more practical than quantitative computed tomography (QCT) for monitoring AATD patients in clinical practice; QCT was considered more useful in trials. AAT therapy provision was reported to be highly variable: France and Germany were reported to treat the highest proportion (∼60%) of diagnosed patients, in contrast to the UK and Hungary, where virtually no patients receive AAT therapy. Most clinicians supported self-administration and extended dosing intervals to improve convenience of AAT therapy. This survey indicates that AATD diagnosis and management are highly heterogeneous in Europe; European cooperation is essential to generate data to support access to AAT therapy. Improving convenience of AAT therapy is an ongoing objective. @ERSpublications Access to α1-antitrypsin (α1-AT) therapy varies in Europe; where available, α1-AT therapy optimisation is the goal http://ow.ly/YL6m30n4LV3 Cite this article as: Horváth I, Canotilho M, Chlumský J, et al. Diagnosis and management of α1-antitrypsin deficiency in Europe: an expert survey. ERJ Open Res 2019; 5: 00171-2018 [https:// doi.org/10.1183/23120541.00171-2018]. Copyright ©ERS 2019. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. Received: Sept 24 2018 | Accepted after revision: Dec 12 2018 https://doi.org/10.1183/23120541.00171-2018 ERJ Open Res 2019; 5: 00171-2018 ORIGINAL ARTICLE COPD