Diagnosing primary ciliary dyskinesia: an international patient perspective

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Date
2016-08-01
Authors
Behan, Laura
Dunn Galvin, Audrey
Rubbo, Bruna
Masefield, Sarah
Copeland, Fiona
Manion, Michele
Rindlisbacher, Bernhard
Redfern, Beatrice
Lucas, Jane S.
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European Respiratory Society
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Abstract
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. A European Respiratory Society (ERS) Task Force aims to address disparities in diagnostics across Europe by providing evidence-based clinical practice guidelines. We aimed to identify challenges faced by patients when referred for PCD diagnostic testing. A patient survey was developed by patient representatives and healthcare specialists to capture experience. Online versions of the survey were translated into nine languages and completed in 25 countries. Of the respondents (n=365), 74% were PCD-positive, 5% PCD-negative and 21% PCD-uncertain/inconclusive. We then interviewed 20 parents/patients. Transcripts were analysed thematically. 35% of respondents visited their doctor more than 40 times with PCD-related symptoms prior to diagnostic referral. Furthermore, the most prominent theme among interviewees was a lack of PCD awareness among medical practitioners and failure to take past history into account, leading to delayed diagnosis. Patients also highlighted the need for improved reporting of results and a solution to the “inconclusive” diagnostic status. These findings will be used to advise the ERS Task Force guidelines for diagnosing PCD, and should help stakeholders responsible for improving existing services and expanding provision for diagnosis of this rare disease.
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Keywords
Primary ciliary dyskinesia , PCD , European Respiratory Society (ERS) Task Force , Evidence-based clinical practice , ERS Task Force guidelines , Diagnosis
Citation
Behan, L., Dunn Galvin, A., Rubbo, B., Masefield, S., Copeland, F., Manion, M., Rindlisbacher, B., Redfern, B. & Lucas, J. S. (2016) ‘Diagnosing primary ciliary dyskinesia: an international patient perspective’, European Respiratory Journal, 48, 1096-1107. doi: 10.1183/13993003.02018-2015