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Cambridge University Hospitals and Glasgow hospital team up to create familial pneumothorax rare disease collaborative network



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Efforts to fight a rare genetic lung disease and help patients with it get the right treatment are stepping up from today (Wednesday).

Cambridge University Hospitals NHS Foundation Trust (CUH) and Queen Elizabeth University Hospital, Glasgow, are teaming up to form the familial pneumothorax rare disease collaborative network.

Professor Stefan Marciniak, based at the Cambridge Institute for Medical Research. Picture: Matthew J Gratian
Professor Stefan Marciniak, based at the Cambridge Institute for Medical Research. Picture: Matthew J Gratian

A pneumothorax occurs when an air leak causes a lung to deflate, causing pain and breathlessness. In patients with no obvious underlying lung disease, it is known as a primary spontaneous pneumothorax (PSP) and occurs at a rate of 20 cases per 100,000 people per year.

In 10 per cent of these cases, another family member has suffered a pneumothorax, which prompts the rare diagnosis of familial pneumothorax.

This can be caused by inherited syndromes, including Birt-Hogg-Dubé syndrome, which causes pneumothorax and renal cancer, or by several diseases that affect the body's connective tissues, such as Marfan, Loeys-Dietz and vascular Ehlers-Danlos syndromes. Currently, only a small minority of these families are diagnosed and receive the correct, personalised, treatments.

Experts in the network will examine cases and give local teams guidance. Treatment will continue to be delivered locally to patients, but if necessary patients could be seen at the two hospitals in person or by video link. Heart, lung and genetic testing will be be available, along with genetic counselling.

Leading the Cambridge team will be Professor Stefan Marciniak, based at the Cambridge Institute for Medical Research, within CUH, who is a professor of respiratory science at the University of Cambridge and honorary consultant respiratory physician at CUH and Royal Papworth.

He said: “This multi-disciplined team has been working here since 2008. We are delighted that NHS England Highly Specialised Services has recognised the importance of our work. Becoming part of a Rare Disease Collaborative Network means we can see patients faster, deliver treatments more quickly and work in partnership with other experts in Glasgow for the benefit of our patients.”

Professor Kevin Blyth, who is professor of respiratory medicine at the University of Glasgow
Professor Kevin Blyth, who is professor of respiratory medicine at the University of Glasgow

Professor Kevin Blyth, who is professor of respiratory medicine at the University of Glasgow and an honorary consultant, said: “This is an important development that will allow us to share best practice more effectively and develop a better understanding of how best to support and manage patients with these uncommon but important conditions.”

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