First European guidelines for diagnosis of rare lung disease

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An expert committee has written the first guidelines on diagnosing the rare lung condition primary ciliary dyskinesia (PCD), led by Dr Jane Lucas from the NIHR Respiratory Biomedical Research Unit. 

New guidelines produced by a European Respiratory Society (ERS) committee of experts, led by Professor Jane Lucas, recommend a standard set of tests to diagnose this rare lung condition.

Difficult to diagnose 

PCD is a rare genetic lung condition that affects around one in 10,000 people in most areas of the world, including the UK, leaving them unable to clear mucus from their lungs. It results in a persistent cough and frequent sinus, ear and chest infections from an early age.

Because PCD symptoms in babies, including a wet cough, blocked nose or hearing problems a few days after birth, are shared with other lung conditions, patients often remain undiagnosed for years and some never receive a diagnosis.

The lack of a single, ‘gold standard’, test has made PCD diagnosis very difficult, with different tests being used depending on where a patient is seen.

“The difficulty with primary ciliary dyskinesia,” explains Prof Lucas, “is that there isn’t a single test that will tell you whether you have or haven’t got the disease, so there’s a combination of tests that need to be used.”

Developing the first guidelines

The ERS committee brought together leaders in PCD research and treatment from 40 different European countries to create the first comprehensive set of guidelines for healthcare professionals.

Published in the European Respiratory Journal, the guidelines are based on a review of evidence available on diagnostic tests, and explains how best to combine them.

As well as looking at the patient’s medical history, the guidelines also recommend using a test that measures a gas in the nose called nasal nitric oxide, which is very low in patients with PCD for reasons not yet understood.

It also recommends conducting genetic tests and looking at the microscopic hairs, or cilia, that help clear our nose and lungs of mucus by beating in waves to see if they’re beating properly - disruption to this is the root of PCD’s name and symptoms.

Posted on Monday 9 January 2017