Energy, Superglue and Dominoes: A summary of the Sixth BHD Symposium Patient and Family session

On Saturday 26th September the Sixth BHD and First International Upstate Kidney Cancer Symposium ended with a patient and family session. The session was chaired by Lindsay Middelton, a genetic counsellor from the NCI, and featured presentations and Q&A sessions with several clinical experts.

Dr Jorge Toro, a dermatologist at the Washington DC VA Medical Centre, discussed the different types of skin growths reported by BHD patients and recommended that patients get an annual full body skin examination. As fibrofolliculomas can have significant psychological impact, doctors should investigate treatments with patients; although all current treatments are only temporarily effective.

Professor Elizabeth Henske, a medical oncologist at the Brigham and Woman’s Hospital, summarised current understanding of BHD with “energy, superglue and dominoes”: Folliculin (FLCN) has a role in cellular energy sensing and correcting energy disruptions is a focus of RCC targeted treatments; cells without FLCN become “too stuck together” potentially contributing to lung cyst formation as greater forces would be required to expand the lungs; and as FLCN has roles in multiple pathways its loss has a domino effect on other proteins. Greater understanding of BHD basic science is required to identify new therapeutic targets.

Professor Gennady Bratslavsky, Chair of Urology at SUNY Upstate Medical University, spoke about a surgeon’s role in RCC treatment and the importance of avoiding unnecessary surgeries. As the 3cm rule is effective in BHD patients, and the development of additional tumours is a lifelong risk, operating to remove small tumours could result in patients requiring additional surgeries later. Patients should not be afraid to ask for a second opinion on their case.

Dr Nishant Gupta, a pulmonologist from the University of Cincinnati, described the characteristic lower lung location and oblong shape of BHD lung cysts that can be detected by CT imaging. Pleurodesis fuses the lung surface to the chest wall, reducing the risk of recurrent pneumothorax, but sometimes partially fail over time with subsequent surgeries potentially required. BHD cysts are not degenerative and few new cysts develop over time, therefore regular CT scans are not required.

Dr Laura Schmidt, a researcher at the NCI, discussed current BHD animal models and explained how they increase understanding of pathology. She noted however that these models do not truly represent the human disease and results should be verified in human samples provided by patients. This was followed by reassurance from Dr Steve Landas, a pathologist at SUNY Upstate Medical University, that the urgency for new diagnostic tools and treatments is understood by researchers.

Dr Ilene Sussman, director of the VHL Alliance, described the Cancer in our Genes International Patient (CGIP) databank which could increase understanding of BHD natural history. CGIP is a confidential site where patients can volunteer information on a range of health and lifestyle topics. Anonymised data can then be used by approved researchers to identify new trends and disease associations, potentially answering questions on the impacts of diet and exercise.

Lindsey Middelton concluded the session with a presentation about Clinical Trials and the potential of all patients to contribute to the development of new treatments. Poll results show that prospective participants are frequently concerned about receiving a less effective or placebo treatment, the potential side effects and long-term health risks. However, patient safety is paramount and participants receive very high quality care. In addition, patients in clinical trials can be the first to benefit from new treatments. To ensure they are making an informed choice participants should be told about the potential benefits and risks of the treatment, but also the other options available. It is important that those who do participate follow the treatment plan and maintain contact with the clinical team to report any problems or side effects.

A summary of the scientific and clinical sessions can be found here and thank you again to all those involved in the Symposium and who contributed to its success.

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