SESSION TITLE: Diffuse Lung Disease Case Report Posters
SESSION TYPE: Affiliate Case Report Poster
PRESENTED ON: Tuesday, October 27, 2015 at 01:30 PM - 02:30 PM
INTRODUCTION: Birt-Hogg-Dubé (BHD) is a genetic syndrome that can cause large pulmonary bullae. We present a case of BHD managed with endobronchial valves.
CASE PRESENTATION: A 54 year-old male, former smoker, presented to the ED complaining of dyspnea and chest pain. Past medical history significant for spontaneous pneumothoraces requiring bilateral thoracotomies with pleurodesis, and right upper lobe blebectomy, at 17 and 22 years old. Family history significant for emphysema in mother, aunt, sister, and 25-year old son with history of pneumothorax. CXR on admission showed large blebs and hyperlucency concerning for pneumothorax. Chest CT followed, which confirmed these findings. He was managed with chest tube placement complicated by persistent air leak. On day six, bronchoscopy was done for placement of Spiration IBV in all segments of right lower lobe with immediate resolution of air leak. He was discharged home after placement of Heimlich valve. Patient achieved resolution of respiratory symptoms after procedures. Further work up revealed positive FLCN gene mutation confirming BHD syndrome.
DISCUSSION: BHD is a rare autosomal dominant disorder that affects the follicullin gene in the short arm of chromosome 17 . The syndrome is characterized by development of hair follicle tumors, renal neoplasm, and pulmonary cysts. These cysts present in various sizes with subpleural predominance, develop in mid adulthood, and can rupture, causing spontaneous pneumothorax . Diagnosis is confirmed by presence of FLCN germline mutation . Management of pulmonary manifestations in BHD focuses on the treatment of pneumothorax. Our patient had a persistent air leak days after chest tube placement prompting Spiration IBV placement. These are one-way valves that decrease air flow through the broncho-pleural fistula, promoting the resolution of air leak. They are placed via flexible bronchoscopy and can be removed upon air leak resolution.
CONCLUSIONS: To our knowledge, this is the first case report in the literature of the use of IBV for management of pneumothorax in BHD. IBV valves are a new, minimally invasive therapy to be considered in spontaneous pneumothoraces with persistent air leaks and underlying lung disease.
Reference #1: Nickerson ML, Warren MB, Toro JR et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell. 2002; 2(2): 157.
DISCLOSURE: The following authors have nothing to disclose: Angel Monserrate, Mohammed AlJaghbeer, Maria Cirino-Marcano
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