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      Diagnosis and management of α 1-antitrypsin deficiency in Europe: an expert survey

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          Abstract

          Despite recent improvements, α 1-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.

          Abstract

          Access to α 1-antitrypsin (α 1-AT) therapy varies in Europe; where available, α 1-AT therapy optimisation is the goal http://ow.ly/YL6m30n4LV3

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          Most cited references39

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          Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial.

          The efficacy of α1 proteinase inhibitor (A1PI) augmentation treatment for α1 antitrypsin deficiency has not been substantiated by a randomised, placebo-controlled trial. CT-measured lung density is a more sensitive measure of disease progression in α1 antitrypsin deficiency emphysema than spirometry is, so we aimed to assess the efficacy of augmentation treatment with this measure.
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            Long-term efficacy and safety of α1 proteinase inhibitor treatment for emphysema caused by severe α1 antitrypsin deficiency: an open-label extension trial (RAPID-OLE).

            Purified α1 proteinase inhibitor (A1PI) slowed emphysema progression in patients with severe α1 antitrypsin deficiency in a randomised controlled trial (RAPID-RCT), which was followed by an open-label extension trial (RAPID-OLE). The aim was to investigate the prolonged treatment effect of A1PI on the progression of emphysema as assessed by the loss of lung density in relation to RAPID-RCT.
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              The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult.

              Background: The diagnosis and clinical management of adults with alpha-1 antitrypsin deficiency (AATD) have been the subject of ongoing debate, ever since the publication of the first American Thoracic Society guideline statement in 1989.1 In 2003, the "American Thoracic Society (ATS)/European Respiratory Society (ERS) Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency" made a series of evidence-based recommendations, including a strong recommendation for broad-based diagnostic testing of all symptomatic adults with chronic obstructive pulmonary disease (COPD).2 Even so, AATD remains widely under-recognized. To update the 2003 systematic review and clinical guidance, the Alpha-1 Foundation sponsored a committee of experts to examine all relevant, recent literature in order to provide concise recommendations for the diagnosis and management of individuals with AATD. Purpose: To provide recommendations for: (1) the performance and interpretation of diagnostic testing for AATD, and (2) the current management of adults with AATD and its associated medical conditions. Methods: A systematic review addressing the most pressing questions asked by clinicians (clinician-centric) was performed to identify citations related to AATD that were published since the 2003 comprehensive review, specifically evaluating publications between January 2002 and December 2014. Important, more recent publications were solicited from the writing committee members as well. The combined comprehensive literature reviews of the 2003 document and this current review comprise the evidence upon which the committee's conclusions and recommendations are based. Results: Recommendations for the diagnosis and management of AATD were formulated by the committee. Conclusions: The major recommendations continue to endorse and reinforce the importance of testing for AATD in all adults with symptomatic fixed airflow obstruction, whether clinically labeled as COPD or asthma. Individuals with unexplained bronchiectasis or liver disease also should be tested. Family testing of first-degree relatives is currently the most efficient detection technique. In general, individuals with AATD and emphysema, bronchiectasis, and/or liver disease should be managed according to usual guidelines for these clinical conditions. In countries where intravenous augmentation therapy with purified pooled human plasma-derived alpha-1 antitrypsin is available, recent evidence now provides strong support for its use in appropriate individuals with lung disease due to AATD.
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                Author and article information

                Journal
                ERJ Open Res
                ERJ Open Res
                ERJOR
                erjor
                ERJ Open Research
                European Respiratory Society
                2312-0541
                February 2019
                11 March 2019
                : 5
                : 1
                : 00171-2018
                Affiliations
                [1 ]Dept of Pulmonology, National Koranyi Institute for Pulmonology in Budapest, Budapest, Hungary
                [2 ]Dept of Pneumology, Hospital of Santo Andre – Centro Hospitalar de Leiria, Leiria, Portugal
                [3 ]Dept of Pneumology, Thomayer Hospital, First Faculty of Medicine, Charles University, Prague, Czech Republic
                [4 ]Dept of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland
                [5 ]Dept of Internal Medicine, Respiratory Disease Unit, Spedali Civili, Brescia, Italy
                [6 ]Dept of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium
                [7 ]3rd Medical Dept, Nuremberg General Hospital/Paracelsus Medical University, Nuremberg, Germany
                [8 ]Dept of Internal Medicine II and Pneumology at Wilhelminenspital Wien, Vienna, Austria
                [9 ]Pulmonology Dept, University Hospital Vall d'Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain
                [10 ]Pulmonology Dept, Centro Hospitalar de São João, Porto, Portugal
                [11 ]Dept of Pneumology and Lung Transplantation, Bichat Hospital, Paris, France
                [12 ]Institute of Applied Health Research, University of Birmingham, Birmingham, UK
                [13 ]Leiden University Medical Centre, Dept of Pulmonology, Leiden, Netherlands
                [14 ]Dept of Respiratory Medicine, Beaumont Hospital, Royal College of Surgeons in Ireland, Dublin, Ireland
                Author notes
                Ildikó Horváth, Department of Pulmonology of the National Koranyi Institute for Pulmonology in Budapest, Budapest, Hungary. E-mail: ildiko.horvath@ 123456koranyi.hu .
                Author information
                https://orcid.org/0000-0002-9850-9520
                https://orcid.org/0000-0002-5947-3254
                Article
                00171-2018
                10.1183/23120541.00171-2018
                6409083
                30863774
                6ac8fbe3-f985-4297-a658-b31455f7daa7
                Copyright ©ERS 2019

                This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.

                History
                : 24 September 2018
                : 12 December 2018
                Funding
                Funded by: CSL Behring http://doi.org/10.13039/100008322
                Award ID: N/A
                Categories
                Original Articles
                COPD
                1

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