Abstract
Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sino-pulmonary disease, with symptoms starting soon after birth. An ERS PCD Task Force aims to address diagnostic disparities that exist across Europe by providing an evidence-based practice guideline. We aimed to investigate patient opinions about the PCD diagnostic process.
Methodology: A patient survey was developed by patient representatives and healthcare specialists to capture diagnostic experience and opinions. It was translated into 9 European languages and electronically distributed globally through patient organisations and ELF. Patients at different stages of testing and with a variety of outcomes were included.
Results: 352 patients/parents completed the survey from 25 EU and non EU countries, 76% PCD positive, 6% negative and 18% uncertain for PCD. 35% had >40 visits to their doctor for symptoms prior to referral for PCD testing. Age at testing was significantly lower for patients with situs inversus (median=4 years, range 0-58) than situs solitus (median=7 years, range 0-70). Nasal brushing biopsy was the most common procedure (77%) followed by nasal nitric oxide (45%). Improved PCD awareness among medical practitioners (97%), access to a PCD expert to analyse results (97%) and improved information on PCD testing (96%) were reported as important or very important. Travelling long distances to specialist centres and repeat testing were not highlighted as problematic.
Conclusion: Improved knowledge among medical practitioners and access to PCD specialist services were the most important issues as rated by patients. Patient opinions will contribute to the ERS PCD Taskforce practice guidelines for diagnosis.
- Copyright ©ERS 2015
