Abstract
Background and objectivesBirt–Hogg–Dubé syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell cancer due to germline folliculin (FLCN) mutations (Menko et al. in Lancet Oncol 10(12):1199–1206, 2009). The aim of this study was to evaluate the incidence of spontaneous pneumothorax in patients with BHD during or shortly after air travel and diving.MethodsA questionnaire was sent to a cohort of 190 BHD patients and the medical files of these patients were evaluated. The diagnosis of BHD was confirmed by FLCN mutations analysis in all patients. We assessed how many spontaneous pneumothoraces (SP) occurred within 1 month after air travel or diving.ResultsIn total 158 (83.2 %) patients returned the completed questionnaire. A total of 145 patients had a history of air travel. Sixty-one of them had a history of SP (42.1 %), with a mean of 2.48 episodes (range 1–10). Twenty-four (35.8 %) patients had a history of pneumothorax on both sides. Thirteen patients developed SP < 1 month after air travel (9.0 %) and two patients developed a SP < 1 month after diving (3.7 %). We found in this population of BHD patients a pneumothorax risk of 0.63 % per flight and a risk of 0.33 % per episode of diving. Symptoms possible related to SP were perceived in 30 patients (20.7 %) after air travel, respectively in ten patients (18.5 %) after diving.ConclusionBased on the results presented in this retrospective study, exposure of BHD patients to considerable changes in atmospheric pressure associated with flying and diving may be related to an increased risk for developing a symptomatic pneumothorax. Symptoms reported during or shortly after flying and diving might be related to the early phase of pneumothorax. An individualized advice should be given, taking also into account patients’ preferences and needs.
Highlights
Background and objectivesBirt–Hogg–Dubé syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell cancer due to germline folliculin (FLCN) mutations (Menko et al in Lancet Oncol 10(12):1199–1206, 2009)
Birt–Hogg–Dubé syndrome (BHD) is an autosomal dominant condition caused by germline mutations in the folliculin (FLCN) gene, clinically characterized by skin fibrofolliculomas, pulmonary cysts spontaneous pneumothorax and an increased risk of renal cell cancer
As there is no clear definition of “air travel related pneumothorax” we evaluated the prevalence of spontaneous pneumothorax and adverse events in a period of 1 month both after air travel and after diving
Summary
Birt–Hogg–Dubé syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell cancer due to germline folliculin (FLCN) mutations (Menko et al in Lancet Oncol 10(12):1199–1206, 2009). The aim of this study was to evaluate the incidence of spontaneous pneumothorax in patients with BHD during or shortly after air travel and diving. Changes in atmospheric pressure are related to a higher incidence of spontaneous primary pneumothorax. Lung cysts, emphysematous blebs or bullae may predispose to air trapping (Edmonds et al 1992). BHD is an autosomal dominant condition caused by germline mutations in the folliculin (FLCN) gene, clinically characterized by skin fibrofolliculomas, pulmonary cysts (recurrent) spontaneous pneumothorax and an increased risk of renal cell cancer. 90 % of BHD patients show multiple lung cysts on standard CT. Lung function generally remains unaffected, demonstrated by normal spirometry and diffusion capacity (Johannesma et al 2014a)
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