M Al-SHINNAG1, H MARFAN2,3, R SUSMAN2,3, J WAKELING3, S WOOD4, AJ MALLETT1,2
1Kidney Health Service, Royal Brisbane And Women’s Hospital , Herston, Australia, 2Faculty of Medicine, The University of Queensland, Herston, Australia, 3Genetic Health Queensland, Herston, Australia, 4Department of Urology, Princess Alexandra Hospital, Woolloongabba , Australia
Background: BHD is a rare autosomal dominant disorder caused by germline FLCN mutations characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and Renal Cell Carcinoma (RCC). The cumulative risk of RCC is 16% with life-long screening recommended.
Aim: To assess adherence to surveillance guidelines in an Australian BHD cohort and to describe disease characteristics.
Method: All patients with a diagnosis (clinical/genetic) of BHD at RBWH 01/01/2014-31/12/2017 were included (HREC/17/QRBW/276). All patients were initially assessed and counselled by a Clinical Geneticist and Genetic Counsellor and then referred to an Adult Nephrologist. Baseline and incident clinical variables were extracted and analysed.
Results: 18 patients were identified with a median age of 57years. 9/18 were female. The median and cumulative follow-up time were 1.5years and 39years respectively.Cutaneous fibrofolliculoma was noted in 8/18 patients, lung cysts in 3/18 patients, spontaneous pneumothorax in 3/18 patients, and past parotid oncocytoma in 2/18. A positive family history was documented in 12/18 patients and 13/18 patients had a confirmed genetic diagnosis.Chest X-ray or computed tomography was undertaken in 13/18 patients. Surveillance magnetic resonance imaging occurred in 13/18 patients, initially annually and now third yearly. The remaining 5/18 patients who had not undertaken surveillance imaging :3/5 yet to have MRI and 2 lost follow up 2/18 patients have been diagnosed with RCC at the ages of 73 and 77years, both occurring prior to commencing surveillance. No RCC events have occurred whilst under surveillance, however 2/18 are undergoing intensified imaging for renal lesions of uncertain significance.
Conclusion: Coordinated screening and longitudinal care for BHD via multidisciplinary collaboration is feasible, with especial attention warranted for surveillance guideline adherence.
Mohammad Al-shinnag is a Basic Physician Trainee who is currently working in Queensland Health. He has strong interest in clinical genetics. Mohammad Graduated from School of Medicine , Jordan University of Science and Technology in 2008 and moved to Brisbane, Australia in 2011 to start his Journey in clinical training.