Recommendations on scuba diving in Birt-Hogg-Dubé syndrome

ABSTRACT

Introduction

Although very uncommon, severe injury and death can occur during scuba diving. One of the main causes of scuba diving fatalities is pulmonary barotrauma due to significant changes in ambient pressure. Pathology of the lung parenchyma, such as cystic lesions, might increase the risk of pulmonary barotrauma.

Areas covered

Birt–Hogg–Dubé syndrome (BHD), caused by pathogenic variants in the FLCN gene, is characterized by skin fibrofolliculomas, an increased risk of renal cell carcinoma, multiple lung cysts and spontaneous pneumothorax. Given the pulmonary involvement, in some countries patients with BHD are generally recommended to avoid scuba diving, although evidence-based guidelines are lacking. We aim to provide recommendations on scuba diving for patients with BHD, based on a survey of literature on pulmonary cysts and pulmonary barotrauma in scuba diving.

Expert opinion

In our opinion, although the absolute risks are likely to be low, caution is warranted. Given the relative paucity of literature and the potential fatal outcome, patients with BHD with a strong desire for scuba diving should be informed of the potential risks in a personal assessment. If available a diving physician should be consulted, and a low radiation dose chest computed tomography (CT)-scan to assess pulmonary lesions could be considered.

KEYWORDS:

• Scuba diving
• spontaneous pneumothorax
• barotrauma
• arterial gas embolism
• lung cysts
• Birt–Hogg–Dubé syndrome
• folliculin
• FLCN

Article highlights

• BHD is characterized by skin fibrofolliculomas, an increased risk of renal cell carcinoma, multiple lung cysts and spontaneous pneumothorax.

• Pre-existing pathology of the lung parenchyma, such as cystic lesions, might increase the risk of pulmonary barotrauma.

• Currently evidence based guidelines on BHD and scuba diving are lacking, however given the pulmonary involvement, in some countries patients with BHD are generally recommended to avoid scuba diving,

• In our opinion, although the absolute risks are likely to be low, caution is warranted if BHD patients have a desire to go scuba diving.

• Patients with BHD should be informed about the potential (fatal) risks and associated insurance consequences which may vary between countries.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This study was supported by the Myrovlytis Trust, grant MT21_6.