Partial pleural covering for intractable pneumothorax in patients with Birt-Hogg-Dubé Syndrome.

Background And Aims: Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder associated with a germline mutation of the folliculin (FLCN) gene. Most patients with BHD have multiple pulmonary cysts, and are at high risk of repeated pneumothorax. Although an increasing number of patients are diagnosed with BHD by genetic testing, therapeutic approaches for intractable pneumothorax have not yet been described.

Methods: We treated three patients who had repeated episodes of pneumothorax. All had multiple pulmonary cysts in the lower lobes, and two had a family history of pneumothorax. Video-assisted thoracic surgery was used to perform wedge resections and partial pleural covering of the cystic lesions. The partial pleural covering technique used sheets of polyglycolic acid felt or regenerative oxidized cellulose mesh. The resected tissues underwent histopathological evaluation, and peripheral blood leukocytes were tested for FLCN mutations.

Results: The operative times were less than 2 h, and there were no complications. The resected cysts had histopathological features characteristic of BHD lung. All patients were found to have FLCN germline mutations; thus their repeated pneumothoraces were a manifestation of BHD. None of the patients developed respiratory problems after undergoing the partial pleural covering procedure, and they have all been well without pneumothorax for 30 months or more.

Conclusions: Partial pleural covering combined with resection of protruding cysts should be a safe and effective therapeutic approach for BHD patients with intractable pneumothorax. Further investigation is needed to establish a detailed protocol for treatment of pneumothorax that results in minimal functional impairment.