Birt-Hogg-Dubé (BHD) syndrome in patients with spontaneous pneumothorax (SP). Preliminary result shows high prevalence of BHD in SP patients.

B P Hoppe,L Kroft,J W K Van Den Berg,H J Smit,C Klop,C Van Asperen,W Thijs,S A Smulders,L Stoger,F Baas,F M Schramel,P E Postmus,D Schippers,W J Blox,M Nagtegaal

doi:10.1183/13993003.congress-2022.3442

Abstract

Introduction: Investigation to diagnose Birt-Hogg-Dubé (BHD) syndrome in spontaneous pneumothorax (SP) patients is no routine despite that the prevalence of BHD may be as high as 5-10 percent1. The lifetime risk in BHD patients for renal cell cancer is high (up to 35%)2 and may therefore justify screening for BHD in SP patients. Furthermore, for each affected SP patient 3-4 affected family members were found. Aim and objectives: The aim of this study is to establish the prevalence of Birt-Hogg-Dubé syndrome in patients presenting with a ‘primary’ SP. The second aim of the study is to detect other abnormalities likely related to the SP. In this study a total of 350 patient will be included from 11 hospitals in the Netherlands. Methods: Patients with a primary SP are tested for the existence of BHD through FLCN mutation testing and low dose CT Thorax. In addition a questionnaire at start, 1 and 4 years is performed. We present the first results of screening for FLCN mutation after SP. Results: From September 2020 till December 2021 106 spontaneous pneumothorax patients were included and analyzed in this study. 7 (6-7%) patients were found to carry a FLCN mutation. Conclusions: These early findings suggest that the prevalence of BHD in SP patients might be as high as 6-7 percent. As the lifetime risk in BHD patients for renal cell cancer is high, and through each affected person asymptomatic family members may be found, this justifies screening for BHD in SP patients.

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