BHD genetic testing based on pulmonary symptoms

Recently there have been several reports on the prevalence of undiagnosed BHD among patients presenting with pneumothorax and suggestion for new diagnostic guidelines based on pulmonary history with genetic testing to identify these patients earlier.

Johannesma et al. (2014) present further data that suggests 5-10% of patients diagnosed with PSP could in fact be undiagnosed BHD patients (an occurrence also reported in Ren et al. 2008). Evidence from two cohort studies suggests that patients with a history of recurrent PSP and in whom <50% of lung cysts are located below the level of the carina are prime candidates for genetic analysis to determine if mutations in folliculin can be found. The diagnosis of BHD in these individuals allowed for familial screening to identify others carrying the folliculin mutation.

In addition Dal Sasso et al. (2014) present a very concise and succinct review of current BHD literature covering genetics, pathology, clinical manifestation, diagnosis and treatment. There is some focus on pulmonary pathology development and the authors support the new suggested guidelines for BHD genetic testing based on initial pulmonary imaging.


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