A new case study from Tamburrini et al. (2015) describes the first diagnosis of BHD in a patient presenting with simultaneous bilateral spontaneous pneumothorax (SBSP). SBSP is a rare event that accounts for approximately 1% of all spontaneous pneumothoraces and in 65% of cases is associated with an underlying lung disease (Sayar et al., 2004).
The patient, a 43 year old healthy male, presented with left-sided chest pain and increasing breathlessness. A CT identified SBSP and numerous bilateral pulmonary cysts in the sub-pleural region. The patient’s family history of spontaneous pneumothorax alongside the distinctive radiological images led to a suspicion of BHD. Genetic testing confirmed the presence of a FLCN mutation (c.1285dupC) in the patient, his mother, aunt and brother – who was subsequently found to have RCC.
Tamburrini et al. acknowledge the delays in BHD diagnosis that can occur due to physicians’ unfamiliarity with the disease. They state that BHD is a “reasonable diagnosis to suspect” in patients with multiple bilateral lung cysts but also considered other cystic lung diseases in their differential diagnosis.