Southampton researchers have developed a new clinical tool to diagnose the rare disease primary ciliary dyskinesia, enabling more patients to get the specialist care they need.
Primary ciliary dyskinesia, or PCD, is a rare genetic condition which renders inneffective the tiny hair-like structures lining the airways of our lungs called cilia. As these cilia are responsible for keeping the lungs clear of the bacteria we breathe in, those with PCD often get sinus, ear and lung infections. Early diagnosis is important to keep the airways as healthy as possible and prevent lung damage.
There is currently little guidance for lung, ear, nose and throat specialists for PCD diagnosis and referral for specialist treatment. Now researchers at the NIHR Southampton Respiratory Biomedical Research Unit have published in The European Respiratory Journal a description of their new PCD diagnostic tool PICADAR.
Diagnosing it early
Patients with PCD are unable to clear mucus from their lungs, leaving them with a persistent cough and frequent sinus, ear and chest infections from a young age, alongside a greater risk of infertility and congenital heart problems. The disease is characterised by malfunctioning cilia, which protrude from specialised cell types and serve a wide variety of functions in the body.
Earlier diagnosis for PCD enables the family to receive support and the disease to be managed appropriately from a young age, so improving the long term outlook for the patient. Symptoms such as ear infections, for example, need to be treated differently. Yet the condition often goes undiagnosed or is diagnosed later in life, since current diagnostic methods require expensive equipment and an experienced team, unavailable to doctors referring the patient.
Simple and cost effective
The study was set up to produce a quick and easy to use scoring tool to predict whether patients showing symptoms have PCD. The researchers recruited patients from Southampton’s PCD diagnostic centre, who had an interview with the doctor at the start of their appointment.
During the interview, their doctor asked questions about their symptoms, such as a daily cough, ear infections or heart problems, and used their answers to give a score indicating whether or not they have the condition. This was repeated for a small subset of patients at another clinic to check they received the same diagnosis.
This provides a new simple, cost effective guide for doctors to use to determine whether a patient needs to see a PCD specialist. Through improving diagnosis and management of this condition from an early age, it is hoped that this tool will improve the lives of those with PCD.