BHD Syndrome is the genetic cause of 10% of primary spontaneous pneumothorax. Unfortunately, it is not widely known that spontaneous pneumothorax can be a symptom of BHD. Therefore, many people presenting with pneumothorax go undiagnosed for BHD syndrome. An accurate diagnosis would allow patients to be screened for kidney cancer enabling them to receive timely treatment, and would also give their family the chance to be tested for Folliculin mutation.
The BHD Foundation (with the Myrovlytis Trust) is promoting an awareness campaign that tackles this issue.
Pneumothorax BHD Awareness campaign is a campaign to raise awareness among pulmonologists, radiologists, thoracic surgeons, respiratory nurses, technicians and medical students of the fact that pneumothorax can be a symptom of BHD syndrome, and that BHD should be considered as a diagnosis for patients presenting with pneumothorax. Another aim of the campaign is to inform as many people as possible, who have had an unexplained pneumothorax, of BHD as a potential cause.
Initially, we are aiming to have a presence (personally and in combination with oral or poster presentations, leaflets and exhibition stands) at respiratory conferences, and possibly submitting a collaborative multi-author piece to a respiratory journal.
This week we are at the JointCHESTSGP2017 in Basel, Switzerland, a joint congress organised by the American College of Chest Physicians (CHEST) and the Swiss Pneumology Society (SGP) with almost 1000 chest specialists. We have been talking to doctors, students, nurses and imaging experts about BHD Syndrome, unknown to most of them.
A social media engagement plan is also being developed to create an online movement around the campaign. We hope that patients, professional and patient societies will help to promote the campaign through their social channels and we will provide social media content to support with this.
In the future, we are considering contacting radiology, pulmonary, thoracic clinics/hospital services with a questionnaire about pneumothorax and BHD and sending informational e-mails about pneumothorax and BHD that is clear, credible and attracts attention. Also, creating an eLearning module about BHD (possibly combined with LAM and other diffuse cystic lung diseases) and producing “Hospital information packs” about BHD to be sent to staff at hospitals.