B47-41 Spontaneous Pneumothorax in a Middle-Aged Male: Unmasking Birt-Hugh-Dube Syndrome

Abstract Introduction Birt-Hogg-Dubé syndrome is a rare autosomal dominant condition characterized by pulmonary cysts that may lead to recurrent spontaneous pneumothoraces, benign cutaneous folliculomas on the head and neck, and the potential development of renal malignancies. Although the incidence of Birt-Hogg-Dubé syndrome is unknown and diagnosis is challenging, it should be considered as a key differential in patients with a family history of spontaneous pneumothorax, as illustrated by our case. Case Description A 48-year-old male with no significant past medical history presented to the emergency department for further evaluation of left-sided spontaneous pneumothorax. Prior to his presentation, he had complaints of back pain, shortness of breath on exertion, and a cough. The patient is a lifelong non-smoker and did not have any history of similar episodes previously. He had a strong family history of recurrent episodes of spontaneous pneumothorax on his paternal side, with some family members requiring pleurodesis.CT scan of his chest on admission showed multiple thin-walled cysts bilaterally in addition to the small left pneumothorax, which was improving with a pleural catheter. Given the patient’s family history and absence of risk factors or underlying disease, Birt-Hogg-Dube syndrome (BHD) was high on the differentials. He subsequently underwent genetic testing of the FCLN gene, which revealed a pathogenic variant, c.1285dup (p.His429ProfsTer27), confirming the diagnosis of Birt-Hogg-Dubé syndrome.The patient was referred to thoracic surgery for surgical management because of multiple peripheral cysts and the need for frequent air travel for work. He had no post-op complications, and his abdominal MRI showed normal sized kidneys with no renal cysts. The patient was recommended renal tumor screening every two years, and he was counseled on genetic screening for his immediate family members. Discussion Birt-Hogg-Dubé syndrome is a rare disorder, where early recognition and intervention play an important role in preventing severe complications such as renal malignancies. Our case illustrates the importance of considering a genetic predisposition in patients with a family history of primary spontaneous pneumothorax. Despite an extensive family history, none of the affected relatives had been referred for genetic workup for conditions such as Birt-Hogg-Dubé syndrome, Marfan syndrome, Homocystinuria, Ehlers-Danlos syndrome, and α1-Antitrypsin deficiency. This abstract is funded by: None