Approved by NHS England Highly Specialised Services in 2021. Patients will be seen in Cambridge or Glasgow according to the protocol developed at the Cambridge Pneumothorax Clinic since 2008 and subsequently codified in two publications (1, 2).
Clinicians caring for (and patients with) Familial Pneumothorax
A pneumothorax occurs when the lung deflates because of an air leak. This causes pain and breathlessness. Primary Spontaneous Pneumothorax occurs in patients with no obvious underlying lung disease with an incidence of 20 cases per 100,000 per year. In 10% of these cases, another family member has also suffered a pneumothorax, making the diagnosis one of Familial Pneumothorax. A variety of rare inherited syndromes account for many cases of Familial Pneumothorax, but without a dedicated service only a small minority of these families are diagnosed and treated appropriately.
Early and accurate diagnosis of the cause of Familial Pneumothorax enables the practice of personalised medicine, since many of these syndromes carry risks of subsequent complications that if recognised early are treatable.
About the service
The Familial Pneumothorax Rare Disease Collaborative Network (RDCN) was approved by NHS England Highly Specialised Services in 2021. Patients will be seen in Cambridge or Glasgow according to the protocol developed at the Cambridge Pneumothorax Clinic since 2008 and subsequently codified in two publications (1, 2). This involves systematic collection of relevant clinical history and physical findings necessary to diagnose relevant syndromes (e.g. Ghent criteria for Marfan syndrome, renal cancer history and specific dermatological findings for Birt-Hogg-Dube syndrome etc). Patients may also be seen remotely by video consultation, or by their local teams with support from each RDCC.
Specific investigations will be performed (or reviewed if available from the referring centre) including transthoracic echocardiography (for thoracic aortic dimensions and valvular function, e.g. Marfan, Loeys-Dietz, vascular Ehlers Danlos syndromes) and thoracic computed tomography (e.g. for classical features of Birt-Hogg-Dube syndrome). After genetic counselling, appropriate genetic testing will be performed as indicated by clinical evaluation.
Complex cases will be reviewed at regular national RDCN Familial Pneumothorax multidisciplinary team meetings via a secure videoconferencing. This MDT has met in Cambridge since 2008 at CUHFT and comprises respiratory, genetics and thoracic radiology consultants, with support from pleural disease specialist nurses.
Cambridge also offers an Inherited Cardiac Disease service with an associated Loeys-Dietz syndrome / Marfan Syndrome MDT meeting quarterly (led by Dr Rosemary Rusk, consultant cardiologist). This functions closely with the Familial Pneumothorax RDCN.
Patients failing to meet diagnostic criteria for known clinical syndromes will be offered recruitment to research studies when available.
- Scott RM, Henske EP, Raby B, Boone PM, Rusk RA, Marciniak SJ. Familial pneumothorax: towards precision medicine. Thorax. 2018;73(3):270-6.
- Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019;199(11):1344-57.
Patients should be referred by respiratory physicians in secondary care to the Familial Pneumothorax RDCN, ideally to their closest RDCC.
Contact Professor Stefan Marciniak: firstname.lastname@example.org
Cambridge Pneumothorax Service
Director: Prof Stefan Marciniak
Pleural consultants: Dr Theresia Mikolasch, Dr Jurgen Herre and Dr Martin Knolle
Pleural nurse specialists: SpN Hannah Collins, SpN Gareth Duck and SpN Leila Khoshmanesh
Genetics consultant: Dr Simon Holden
Consultant thoracic radiologists: Dr Judith Babar, Dr Sumit Karia, Dr Maria TA Wetscherek, Dr Allanah Barker
Pleural services administrator: Rachel Caulkett
Glasgow Pneumothorax Service
Director: Prof Kevin Blyth
Pleural consultants: Dr Selina Tsim and Dr Neil McGlinchey
Pleural nurse specialist: Laura McNaughton