Prevalence of Birt-Hogg-Dube Syndrome and Kidney Cancer Surveillance in Tasmania, Australia

Abstract

Abstract Birt-Hogg Dubé Syndrome (BHD) is a rare autosomal dominant condition characterised by a predisposition to benign skin lesions, pulmonary cysts, spontaneous pneumothorax and kidney cancer. An audit of the Tasmanian Clinical Genetics Service database was conducted to identify individuals with molecularly confirmed BHD. To ensure Tasmanians with BHD would be able to meet contemporary national screening guidelines, individuals diagnosed with BHD seen by the Tasmanian Clinical Genetics Service between 2010 and 2021 were invited to complete a survey regarding screening practices. We identified 37 individuals (23 women and 14 males, mean age 62 years old) with molecularly confirmed BHD, giving an estimated population prevalence in 2021 of 7 per 100,000. The majority (80%) lived in inner-regional locations with up to a one-hour travel time to medical imaging facilities. Of those identified, 14 (37%) completed the screening survey, with 8 (57%) reporting at least one screening test for kidney cancer since diagnosis; only 4 (28%) met current guidelines on screening frequency. Our findings showed that Tasmania had an unexpectedly high population prevalence of BHD yet screening for kidney cancer was suboptimal. This is the first study that demonstrates BHD is more prevalent in Tasmania compared to the global average and highlights the need for improved access and education on cancer surveillance.