National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Birt-Hogg-Dube syndrome

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What is the best way to treat the cysts that develop on the lungs as a result of this condition?
At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs.[1]  There is no recommended management of the lung cysts.  Lung cysts related to BHD have not been associated with long-term disability or fatality.[2]  The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax).

If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan.[1]  Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions.[2]  It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking.[2][3]

Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).[3]
Last updated: 6/27/2014

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  1. Toro JR. Birt-Hogg-Dubé Syndrome. GeneReviews. 08/07/2014; http://www.ncbi.nlm.nih.gov/books/NBK1522/.
  2. Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. American Journal of Respiratory and Critical Care Medicine. 2007; 175(10):1044-1053. Available at http://www.ncbi.nlm.nih.gov/pubmed/17322109. Accessed 6/27/2014.
  3. Menko FH, van Steensel, MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, O Hansen TV, Solly J, Maher, ER. Birt-Hogg-Dubé syndrome: diagnosis and management. The Lancet Oncology. 2009; 10(12):1199-1206. http://www.bhdsyndrome.org/wp-content/uploads/2009/12/Menko-et-al-20091.pdf. Accessed 6/27/2014.