Diagnosing primary ciliary dyskinesia: an international patient perspective

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sino-pulmonary 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.

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

“…The patient representatives to the Task Force fully endorsed that an accurate diagnosis was an important outcome, because it leads to a better recognition of their problems by physicians and more effective treatment, and thus improves their health and quality of life. This was confirmed by our questionnaire survey of 352 PCD patients from 25 countries, and 20 in-depth interviews [7]. However, diagnostic accuracy studies do not provide direct evidence for the improvement of patient-important outcomes; consequently, the confidence in results of test accuracy studies was judged at best as moderate.…”

“…Evidence from patients does not alter the strength of published evidence but was considered when deciding the strength of recommendations. The Task Force conducted a questionnaire survey of 352 PCD patients from 25 countries, and 20 in-depth interviews [7]. Patients told us that an accurate diagnosis was an important outcome, leading to a better recognition of their problems by physicians and access to effective treatment, thus improving their health and quality of life.…”

Clinical care for primary ciliary dyskinesia: current challenges and future directions

“…An international survey of 271 PCD patients reported 37% had over 40 visits to medical professionals due to PCD-related symptoms before being referred for testing [28]. The most prevalent symptoms in PCD are not disease specific; perhaps not surprisingly, patients with situs inversus, a rare condition in the general population [29], are diagnosed at an earlier age [17].…”

“…Despite the majority of patients presenting with NRS [5], studies have shown that neonates are rarely diagnosed with PCD [2,17], nor are they referred early for testing [28]. MULLOWNEY et al [6] demonstrated that the combination of lobar collapse, situs inversus and/or persistent oxygen therapy for over 2 days in term newborns with respiratory distress can accurately predict PCD.…”

“…PCD centres can centralise the diagnosis and management of PCD patients, with the majority of patients willing to travel longer distances to have access to specialised tests and care [28]. In rare disorders, it is essential to have a high throughput of cases for appropriate training of healthcare professionals and diagnostic scientists.…”