Is Scuba Diving Safe with Birt-Hogg-Dubé Syndrome?

In this blog we are looking at the latest clinical recommendations for if you have Birt-Hogg-Dubé Syndrome (BHD) and want to go scuba diving. Whilst scuba diving for many people can be a thrill-seeking experience, there are several risks to be considered if you have BHD, and it is important to be aware of and consider recommendations from clinical experts to keep yourself safe.

Scuba Diving – what are the risks?

Although very rare, scuba diving can cause severe injury and death, even in people with no prior health concerns. Causes of scuba diving-related deaths are reportedly due to pressure changes underwater causing the air sacs in the lungs (known as alveoli) to burst (this bursting is known as a pulmonary barotrauma, referred to here as PB). Symptoms of PB include:

• Chest pain
• Shortness of breath
• Coughing
• Wheezing

PB affects the air sacs in the part of the lungs involved in gas exchange when you breathe in and out. One feature of BHD is presence of lung cysts. If there are lung cysts this could increase the risk of experiencing PB when scuba diving. PB is not always fatal, but BHD could raise this risk due to complications such as lung collapses (pneumothorax) which are common in BHD. Pulmonary barotrauma can happen to anyone who scuba dives, but risks are minimised in slow and controlled ascent which is taught as part of certified scuba diving training.

BHD syndrome is a rare genetic condition caused by differences in coding of the FCLN gene. Features of BHD include skin bumps (known as fibrofolliculomas), kidney tumours, lung cysts and recurring lung collapse (also known as recurring pneumothorax). This paper reviews the risks of scuba diving when you have a diagnosis of BHD and provides recommendations for those who wish to scuba dive.

How are these recommendations made?

These recommendations are from expert clinicians who reviewed available information and case studies. There are not many clinical accounts of BHD and pulmonary barotrauma. This is because post-mortem studies are rare in scuba-diving related deaths. Due to the lack of reports and studies, this topic remains controversial, even amongst experts! However, this paper is the most up-to-date review of information available.

What are the recommendations?

If you have diagnosed BHD and want to go scuba diving:

1. Patients should be educated about the risks of scuba diving and BHD.
2. Lung cysts could be a risk factor in developing fatal PB whilst scuba diving. However, it is hard to say how high this risk is due to the lack of information available.
3. Prior lung collapse is also considered as a risk factor when scuba diving. Generally, in this case it is recommended that you do not scuba dive.
4. If you do decide to go scuba diving, it is recommended to have an assessment by a lung doctor (pulmonologist). If lung cysts are found, it is recommended that you are cautious about scuba diving. This applies even if you have not experienced a lung collapse.
5. If you are a family member of someone with BHD and you are untested, it could be an advantage to get genetic testing prior to scuba diving. Teenage family members who have not been tested for BHD could consider earlier genetic testing if they specifically wish to scuba dive.
6. Currently there are no internationally agreed guidelines due to the lack of available evidence. Please check your country’s individual guidelines and your insurance coverage.

We asked Professor Stefan Marciniak, one of the authors of the original article, for his thoughts:

“It is widely accepted that individuals who have suffered a pneumothorax should not scuba dive in most circumstance. There are rare exceptions, for example when prevented surgery has been performed to both sides of the chest. The literature of risks affecting people with lung cysts, including those with BHD, is limited, so we attempted to bring this together combined with expert opinion. For this reason, it is difficult to be completely prescriptive, but caution is always warranted.”

Stefan Marciniak is a Professor of Respiratory Science at Cambridge Institute for Medical Research and Honorary Consultant in Respiratory Medicine. 

Is this advice likely to change?

BHD may be more common than currently known and therefore, in the future we hope to have more information about BHD and scuba diving. The available evidence reviewed for this paper was scarce and this could mean advice is updated in the future. However, these are the most current recommendations for people with BHD who are considering going scuba diving.

Reference: 

1. Van Riel L, Van Hulst RA, Van Hest L, Van Moorselaar RJA, Boerrigter BG, Franken SM, et al. Recommendations on scuba diving in Birt-Hogg-Dubé syndrome. Expert Review of Respiratory Medicine. 2023;17(11):1003–8. doi:10.1080/17476348.2023.2284375