NHS Creates First-of-Its-Kind Rare Disease Network in UK

The U.K.’s National Health Services has selected hospitals in Cambridge and Glasgow to lead a first-of-its kind collaborative network there to fight a rare genetic lung disease and get the right treatment to patients faster.

Photo: Stefan Marciniak, professor of respiratory science at the University of Cambridge and honorary consultant respiratory physician at CUH and nearby Royal Papworth.

NHS England Highly Specialized Services agreed that Cambridge University Hospital’s NHS Foundation Trust and Queen Elizabeth University Hospital, Glasgow, should combine forces to become the nation’s only Familial Pneumothorax Rare Disease Collaborative Network.

A pneumothorax occurs when a lung deflates because of an air leak, causing pain and breathlessness. When it occurs in patients with no obvious underlying lung disease it is known as a primary spontaneous pneumothorax (PSP). PSP has an incidence rate of 20 cases per 100,000 people per year, but in just 10 per cent of these cases, another family member has suffered a pneumothorax, resulting in the rare diagnosis of familial pneumothorax.

Familial pneumothorax can be caused by a variety of inherited syndromes, such as Birt-Hogg-Dubé syndrome, which causes pneumothorax and renal cancer, and several diseases that affect the body’s connective tissues, such as Marfan, Loeys-Dietz, and vascular Ehlers-Danlos syndromes. However, without a dedicated service only a small minority of these families are diagnosed and receive the correct, personalized, treatments.

Patients will have their case discussed by a team of experts from each center, providing local teams with guidance around diagnosis and management, which will be delivered locally. If necessary, patients may also be seen at one of the two hospitals, in person or by video link. Heart, lung, and genetic testing will be done when needed using the latest technology. The hospitals will direct genetic counselling for those concerned about how their condition may impact on their families.

At Cambridge, the team will be led by director, Stefan Marciniak, professor of respiratory science at the University of Cambridge and honorary consultant respiratory physician at CUH and nearby Royal Papworth.

“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,” said Marciniak.