Dr Laura Cuthbertson1, MICHAEL, MILLWARD2, Dr MATTHEW WALLIS2, Prof MATTHEW JOSE1
1Royal Hobart Hospital, Hobart , Australia , 2Tasmanian Clinical Genetics Service, Hobart, Australia
Aim: To determine prevalence of Birt-Hogg-Dube syndrome (BHD) in Tasmania, characterise pathogenic variants identified in the FLCN gene and audit screening for kidney cancer including renal cell carcinoma (RCC).
Background: BHD is a rare autosomal dominant condition with an estimated prevalence of nine per million population. It is characterised by a predisposition to benign skin lesions, pulmonary cysts (that may be associated with pneumothorax) and carries a 19% lifetime risk of cancer of the kidney.
Methods: We invited individuals with molecularly confirmed BHD who saw the Tasmanian Clinical Genetics Service between 2010 and 2021 to complete a survey of management practices. Comparison was made to eviQ guidelines.
Results: We identified 38 individuals (mean age 62 years old, range 38 to 80 years) with molecularly confirmed BHD, of which 2 were deceased and 1 had moved overseas, giving an estimated population prevalence in 2021 of 70 per million. The majority (80%) lived in inner-regional location with less than one hour travel time to medical imaging facilities.
Of those identified, 14 (37%) completed the screening survey, with 8 reporting at least one screening test for kidney cancer since diagnosis (7 Ultrasound and 1 MRI) and 4 meeting eviQ guidelines on screening frequency. Two reported a previous diagnosis of RCC.
Conclusions: Tasmania had an unexpectedly high population prevalence of BHD yet screening for kidney cancer is suboptimal. We found no evidence for a founder effect in Tasmania, and it is possible that earlier prevalence estimates of BHD were low due to poor ascertainment. This study suggests that diagnosis and recognition of BHD may be poor, and improved access to cancer surveillance is needed.
Biography:
Laura Cuthbertson is a first year Nephrology Advanced Trainee at Royal Hobart Hospital, Tasmania. She is an early career researcher and enjoys all topics kidney related. Outside of work, she enjoys running and listening to heavy metal music.