title: Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome.
abstract: BACKGROUND
  Spontaneous pneumothorax is a common complication of Birt-Hogg-Dubé syndrome (BHD).
  
  
  OBJECTIVE
  The optimal approach to treatment and prevention of BHD-associated spontaneous pneumothorax, and to advising patients with BHD regarding risk of pneumothorax associated with air travel, is not well established.
  
  
  METHODS
  Patients with BHD were recruited from the Rare Lung Diseases Clinic Network and the BHD Foundation and surveyed about disease manifestations and air travel experiences.
  
  
  RESULTS
  A total of 104 patients completed the survey. The average age at diagnosis was 47 years, with an average delay from first symptoms of 13 years. Pulmonary cysts were the most frequent phenotypic manifestation of BHD, present in 85% of patients. Spontaneous pneumothorax was the presenting manifestation that led to the diagnosis of BHD in 65% of patients, typically after the second episode (mean, 2.4 episodes). Seventy-nine (76%) of 104 patients had at least one spontaneous pneumothorax during their lifetime, and 82% had multiple pneumothoraces. Among patients with multiple pneumothoraces, 73% had an ipsilateral recurrence, and 48% had a subsequent contralateral spontaneous pneumothorax following a sentinel event. The mean ages at first and second pneumothoraces were 36.5 years (range, 14-63 yr) and 37 years (range, 20-55 yr), respectively. The average number of spontaneous pneumothoraces experienced by patients with a sentinel pneumothorax was 3.6. Pleurodesis was generally performed after the second (mean, 2.4) ipsilateral pneumothorax and reduced the ipsilateral recurrence rate by half. A total of 11 episodes of spontaneous pneumothorax occurred among eight patients either during or within the 24-hour period following air travel, consistent with an air travel-related pneumothorax rate of 8% per patient and 0.12% per flight. Prior pleurodesis reduced the occurrence of a subsequent flight-related pneumothorax.
  
  
  CONCLUSIONS
  Spontaneous pneumothorax is an important, recurrent manifestation of pulmonary involvement in patients with BHD, and pleurodesis should be considered following the initial pneumothorax to reduce the risk of recurrent episodes. In general, in patients with BHD, pneumothorax occurs in about 1-2 per 1,000 flights, and the risk is lower among patients with a history of prior pleurodesis.
authors.affiliation: 1 Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, College of Medicine, University of Cincinnati, Cincinnati, Ohio.
authors.forename: Nishant
authors.identifier: http://orcid.org/0000-0001-9112-1315
authors.initials: N
authors.lastname: Gupta
authors.affiliation: 1 Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, College of Medicine, University of Cincinnati, Cincinnati, Ohio.
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Kopras
authors.affiliation: 2 Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Elizabeth P
authors.initials: EP
authors.lastname: Henske
authors.affiliation: 3 Research Department, Shriners Hospital for Children-Cincinnati, Cincinnati, Ohio.
authors.forename: Laura E
authors.initials: LE
authors.lastname: James
authors.affiliation: 2 Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
authors.forename: Souheil
authors.initials: S
authors.lastname: El-Chemaly
authors.affiliation: 4 Division of Pulmonary, Allergy and Critical Care, Emory University School of Medicine, Atlanta, Georgia; and.
authors.forename: Srihari
authors.initials: S
authors.lastname: Veeraraghavan
authors.affiliation: 5 Division of Pulmonary & Critical Care Medicine, School of Medicine, Oregon Health & Science University, Portland, Oregon.
authors.forename: Matthew G
authors.initials: MG
authors.lastname: Drake
authors.affiliation: 1 Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, College of Medicine, University of Cincinnati, Cincinnati, Ohio.
authors.forename: Francis X
authors.initials: FX
authors.lastname: McCormack
mesh_terms: D000293:Adolescent; D000328:Adult; D064870:Air Travel / Q000706:statistics & numerical data*; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications*; D003560:Cysts / Q000453:epidemiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018700:Pleurodesis; D011030:Pneumothorax / Q000453:epidemiology* / Q000628:therapy; D012008:Recurrence; D014057:Tomography, X-Ray Computed; D014481:United States; D055815:Young Adult
keywords: Birt–Hogg–Dubé syndrome; air travel; pleurodesis; pneumothorax