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Eur Respir J. 2018 Jul 4;52(1). pii: 1800360. doi: 10.1183/13993003.00360-2018. Print 2018 Jul.

Trends of testing for and diagnosis of α1-antitrypsin deficiency in the UK: more testing is needed.

Author information

1
Instituto de Investigación Hospital Universitario de la Princesa (IISP), Universidad Autónoma de Madrid and SEPAR, Madrid, Spain.
2
Respiratory Effectiveness Group, Cromer, UK.
3
Plymouth University Peninsula School of Medicine and Dentistry, Plymouth, UK.
4
Pneumology Dept, Hospital Universitari Vall d'Hebron and CIBERES, Barcelona, Spain.
5
Optimum Patient Care Ltd, Cambridge, UK.
6
Peterhead Medical Practice, Peterhead, UK.
7
Observational and Pragmatic Research Institute (OPRI) Pte Ltd, Singapore, Singapore.
8
Centre of Academic Primary Care, Division of Applied Health Sciences, University of Aberdeen, Aberdeen, UK.
9
Dept of Respiratory Medicine, Cambridge NIHR BRC, Addenbrookes Hospital, Cambridge, UK.

Abstract

α1-antitrypsin deficiency (AATD) significantly increases the risk of developing chronic obstructive pulmonary disease (COPD), and testing of all COPD patients for AATD is recommended by the World Health Organization, European Respiratory Society and Global Initiative for Chronic Obstructive Lung Disease (GOLD). We aimed to determine trends for testing and diagnosing AATD from 1990 to 2014.This study analysed all patients diagnosed with COPD from about 550 UK Optimum Patient Care Research Database general practices, including a subgroup of those diagnosed before the age of 60 years.We identified 107 024 COPD individuals, of whom 29 596 (27.6%) were diagnosed before 60 years of age. Of them, only 2.2% (95% CI 2.09-2.43%) had any record of being tested for AATD. Of those tested, 23.7% (95% CI 20.5-27.1%) were diagnosed with AATD. Between 1994 and 2013 the incidence of AATD diagnosis generally increased. A diagnosis of AATD was associated with being male, being an ex-smoker, more severe COPD with a lower forced expiratory volume in 1 s % pred and higher GOLD 2017 stages (all p<0.05).Despite an increase in the frequency of AATD testing since 1990, only 2.2% of patients diagnosed with COPD before the age of 60 years were tested. AATD prevalence was 23.7% in those tested. Thus, it appears that AATD remains markedly underdiagnosed in COPD patients.

Conflict of interest statement

Conflict of interest: J.B. Soriano declares having received grants from GSK in 2011 and Chiesi in 2012 via CIMERA, his former home institution, and from 2014 to date from Linde via Hospital Universitario de La Princesa, and has participated in speaking activities, advisory committees and consultancies during the period 2011−2017 sponsored by Almirall, AstraZeneca, Boehringer Ingelheim, CHEST, Chiesi, ERS, GEBRO, Grifols, GSK, Linde, Lipopharma, Mundipharma, Novartis, Pfizer, RiRL, Rovi, Sandoz, SEPAR and Takeda, outside the submitted work. R. Jones has received fees for consultancy from Observational and Pragmatic Research Institute (OPRI), grants from AstraZeneca, and personal fees from AstraZeneca, Boehringer Ingelheim, Chiesi, GSK, Novartis and Pfizer, outside the submitted work.  M. Miravitlles has received fees for board membership, consultancy and lecturing, grants from Grifols, and fees for board membership and consultancy from CSL Behring, outside the submitted work. V. Carter was employed by OPRI, which has conducted paid research in respiratory disease on behalf of the following organisations in the past 5 years: Aerocrine, AKL Research and Development Ltd, Almirall, AstraZeneca, Boehringer Ingelheim, Chiesi, GSK, Mylan, Mundipharma, Napp, Novartis, Orion, Takeda, Teva and Zentiva (a Sanofi company). D. Price has board membership with Aerocrine, Amgen, AstraZeneca, Boehringer Ingelheim, Chiesi, Mylan, Mundipharma, Napp, Novartis, Regeneron Pharmaceuticals, Sanofi Genzyme and Teva Pharmaceuticals; consultancy agreements with Almirall, Amgen, AstraZeneca, Boehringer Ingelheim, Chiesi, GlaxoSmithKline, Mylan, Mundipharma, Napp, Novartis, Pfizer, Teva Pharmaceuticals and Theravance; grants and unrestricted funding for investigator-initiated studies (conducted through OPRI) from Aerocrine, AKL Research and Development Ltd, AstraZeneca, Boehringer Ingelheim, British Lung Foundation, Chiesi, Mylan, Mundipharma, Napp, Novartis, Pfizer, Regeneron Pharmaceuticals, Respiratory Effectiveness Group, Sanofi Genzyme, Teva Pharmaceuticals, Theravance, UK National Health Service and Zentiva (Sanofi Generics); payment for lectures/speaking from Almirall, AstraZeneca, Boehringer Ingelheim, Chiesi, Cipla, GlaxoSmithKline, Kyorin, Mylan, Merck, Mundipharma, Novartis, Pfizer, Regeneron Pharmaceuticals, Sanofi Genzyme, Skyepharma and Teva Pharmaceuticals; payment for manuscript preparation from Mundipharma and Teva Pharmaceuticals; payment for the development of educational materials from Mundipharma and Novartis; payment for travel/accommodation/meeting expenses from Aerocrine, AstraZeneca, Boehringer Ingelheim, Mundipharma, Napp, Novartis and Teva Pharmaceuticals; funding for patient enrolment or completion of research from Chiesi, Novartis, Teva Pharmaceuticals and Zentiva (Sanofi Generics); stock/stock options from AKL Research and Development Ltd which produces phytopharmaceuticals; owns 74% of the social enterprise Optimum Patient Care Ltd (Australia and UK) and 74% of Observational and Pragmatic Research Institute (OPRI) Pte Ltd (Singapore); and is peer reviewer for grant committees of the Efficacy and Mechanism Evaluation programme and Health Technology Assessment.  R. Mahadeva has received fees for consultancy from Boehringer Ingelheim, grants from Pfizer and Open Air, and personal fees from AstraZeneca, Boehringer Ingelheim, Chiesi, Pfizer and Pulmonx, outside the submitted work.

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