Diagnosis and management of α₁-antitrypsin deficiency in Europe: an expert survey

Abstract

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.

α1-Antitrypsin deficiency and chronic respiratory disorders

“…A recent European expert survey has shown that provision of AAT therapy is highly variable throughout Europe [45]. France and Germany were reported to have the highest proportions of diagnosed AATD patients receiving AAT therapy (60%); in Spain, ∼20% of patients receive treatment with AAT.…”

Alpha-1-Antitrypsin-Mangel (AATM) – Ein Expertenstatement

“…Vorerst ist die CT-Densitometrie allerdings noch wissenschaftlichen Fragenstellungen vorbehalten. FEV 1 und DLCO sind laut einer aktuellen Umfrage nach wie vor die am meisten angewandten Messparameter zur Verlaufsbeurteilung der AATM-Erkrankung [28].…”

<p>New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency</p>

“…Given the range of tests available to clinicians, efforts towards the standardization of laboratory diagnostics for AATD are under way and will be discussed later. 10,11 Underdiagnosis, a continuing issue in the field with reports of delays of up to 6 years before a diagnosis of AATD is confirmed, is of particular significance as diagnostic delays have been associated with greater symptom burden at the time of eventual diagnosis. 12 This may result from reluctance of the patient to seek medical attention, lack of health care practitioner awareness, and failure to conduct AATD testing when warranted.…”

“…For example, a program in Germany successfully increased diagnosis rates of AATD by combining an educational campaign with cost-free genetic testing. 17 Another factor is the lack of uniform reimbursement for AAT augmentation therapy, the only available diseasemodifying pharmacological intervention for AATD, 6,10,18 which likely limits prioritization of AATD testing in countries where treatment is not available. 19 Testing should be done regardless of the availability of specific treatment since preventative measures such as smoking cessation, evaluation of occupational exposures, and monitoring for other associated pathologies (eg, liver disease) may significantly modify the clinical course of affected individuals.…”