Abstract Introduction Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder caused by heterozygous FLCN gene mutations on chromosome 17, which encodes a tumor suppressor protein. BHD is characterized by cutaneous fibrofolliculomas, renal tumors, and pulmonary cysts. Although renal disease often drives longitudinal management, pulmonary manifestations including cyst formation and spontaneous pneumothorax are common and clinically significant. We report a case of a 42-year-old woman with known BHD whose pneumothorax recurred following initial resolution with chest tube drainage, necessitating definitive surgical management. Case Presentation A 42-year-old woman with genetically confirmed BHD presented with acute left-sided pleuritic chest pain and mild dyspnea after exercise. In the ED, she was stable on room air with decreased breath sounds on the left. Imaging showed multiple bilateral pulmonary blebs and a small-to-moderate left pneumothorax. Conservative management with supplemental oxygen was initiated, but within hours she developed worsening chest pressure and dyspnea. Repeat imaging revealed pneumothorax enlargement, prompting bedside pigtail chest tube placement with successful lung re-expansion. After transition to water seal and a successful clamp trial, the tube was removed. The following day, imaging demonstrated recurrent moderate pneumothorax. Given her underlying bleb disease, recurrence risk, and to avoid repeat tube placement, definitive surgical management was recommended. On hospital day 6, she underwent robotic left lung decortication, upper and lower lobe wedge resection, and talc pleurodesis without complication. The tube was removed on postoperative day 3 after the patient remained asymptomatic. Postoperative imaging showed a small, stable, apical pneumothorax. She was discharged home in stable condition and follow-up chest X-ray 10 days later showed no pneumothorax, and she remained asymptomatic with no exertional dyspnea. Discussion In BHD, pulmonary cysts are common, and spontaneous pneumothorax occurs in about 25-30% of patients, typically in their late 30s, with risk elevated among those with a family history. Because BHD shares a high cyst burden and recurrence risk with Lymphangioleiomyomatosis (LAM) and since aggressive management has been associated with improved morbidity benefit in LAM, a lower threshold for definitive intervention in BHD may be justified to reduce morbidity and recurrence in BHD. Pulmonary follow-up includes periodic chest CT to assess cyst burden and PFTs, especially in patients with a history of pneumothorax. Clinicians should maintain a high index of suspicion for recurrence even after apparently successful chest tube therapy in BHD. Early surgical intervention can optimize management, reduce recurrence rates, and improve quality of life in these patients. This abstract is funded by: None
Arora et al. (Fri,) studied this question.