Rare Disease Study Day

Rare Disease Study Day

Sheffield Institute for Translational Neuroscience.

7th September 2017.

The Sheffield Institute for Translational Neuroscience will be hosting a day of informative talks about Rare diseases and will include a presentation by Dr Derek Lim, consultant in clinical genetics and BHD expert at Birmingham Women’s Hospital.

Clinicians and rare disease families welcome!

Travel and accommodation can be paid for thanks to the support from the Galton Institute and the Genetics Society.

To attend email: a.mcneill@sheffield.ac.uk

Pneumothorax BHD Awareness campaign continues

All ready to raise awareness this time at the BTS Summer meeting 2017 in Birmingham. Pneumothorax BHD Awareness campaign is a campaign to raise awareness among pulmonologists, radiologists, thoracic surgeons, respiratory nurses, technicians and medical students of the fact that pneumothorax can be a symptom of BHD syndrome, and that BHD should be considered as a diagnosis for patients presenting with pneumothorax.

Spread the word and follow us on social media @BHDSyndrome and the #BTSsummer2017.

Pneumothorax BHD Awareness campaign

All set up to raise awareness at the in Basel. Pneumothorax BHD Awareness campaign is a campaign to raise awareness among pulmonologists, radiologists, thoracic surgeons, respiratory nurses, technicians and medical students of the fact that pneumothorax can be a symptom of BHD syndrome, and that BHD should be considered as a diagnosis for patients presenting with pneumothorax.

Spread the word and follow us on social media @BHDSyndrome!

Charity Officer vacancy

The Myrovlytis Trust currently has a full- or part-time position available for a Charity Officer. The successful candidate will gain experience working in the medical research and communication sector, as well as contributing your ideas at the core of an international research-funding organisation. For the right person, there may be opportunity for the position to develop.

Application deadline: 9am Friday 2nd June, 2017

For more information and application guidelines, please download the Charity Officer vacancy description

New BHD case study – chronic peritoneal inflammation masquerading as metastatic RCC

Kam et al., 2017 report the case of a  50-year-old male presenting with bilateral renal tumours, suspicious for renal cell carcinoma (RCC), and peritoneal thickening and nodules on a CT scan. His medical history included psoriasis and appendicectomy. Physical examination revealed nodules on his face.

CT-guided biopsy of his renal lesions was consistent with chromophobe RCC for which he underwent surgery. Histopathology revealed multifocal hybrid oncocytoma and chromophobe RCC. The tumours were consistent with BHD and genetic testing identified a FLCN gene mutation to confirm the BHD diagnosis.

The patient also presented chronic peritoneal inflammation which could point to metastatic RCC. His CT scan showed the presence of mild peritoneal thickening and a bone scan and CT showed no evidence of metastatic disease.

This is the first reported case of chronic peritoneal inflammation masquerading as metastatic RCC in BHD. The case demonstrates the importance of biopsy and further tests when the presence of peritoneal metastatic disease is unclear.

The cause of the chronic peritoneal inflammation is still unclear and may be related to the molecular genetics of BHD with FLCN possibly interacting with inflammatory signalling.

BHD at Rare Diseases International Policy Event

The Myrovlytis Trust/BHD Foundation attended the Rare Diseases International Policy Event “The Right to Health: The Rare Disease Perspective” at the beginning of February in Geneva.

You can check the livestream recordings of the 3 panels, the presentations, the photos and all other relevant information about the meeting here.

New BHD clinical trial on ClinicalTrials.gov

An observational study  – Assessment of Safery of Air Travel in Patients with BHD Syndrome – aims to assess the safety of air travel in patients with BHD syndrome via a questionnaire. Secondary aims of this study include further characterisation of the clinical aspects of disease and to establish a contact registry for these patients, in order to facilitate future studies.

Further details about the study, including access to the study questionnaire, are provided in the link below:

https://redcap.research.cchmc.org/surveys/?s=oNTxfZ9gqz

Four new BHD case studies

Li et al., 2017 report two Chinese BHD patients with novel FLCN mutations (c.946-947delAG and c.770-772delCCT), a 54-year-old man and a 37-year-old man. Both had RCC and spontaneous pneumothorax without fibrofolliculomas and spontaneous pneumothorax on their family history. The incidence of fibrofolliculomas may be lower among Asian BHD patients compared with the higher incidence reported among patients from the United States and Europe.  In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts.

Castellucci et al., 2016 report the case of a patient with seven kidney tumours discovered after ultrasound performed for other reasons. Tumours were classified as multifocal type chromophobe renal cell carcinoma and clear cell. After 1 month, the patient was readmitted for spontaneous pneumothorax. Genome analysis highlighted the FLCN mutation c. 1379_1380. Currently, the patient is under close follow-up. After 1 year, the chest computed tomography (CT) confirmed the presence of minute air bubbles scattered on both sides of the lungs.

Wiyono et al., 2016 present the case of a 51-year-old Indonesian female presenting with recurrent spontaneous pneumothorax, multiple cysts in both lungs, and a renal cyst. Her family history revealed that her mother had a history of renal tumour. Genetic testing detected a pathogenic FLCN mutation c.601C > T.

Monserrate et al., 2016 present the case of a 54-year-old male with a past medical history of spontaneous pneumothorax. Family history was significant for emphysema and pneumothorax. A chest CT confirmed diagnosis of pneumothorax, with severe bilateral bullous changes. Patient underwent bronchoscopy with placement of intra bronchial valves (IBVs). Because of persistent cough, IBVs were removed 3 weeks after discharge. During the follow-up, the patient achieved complete resolution of respiratory symptoms. Genetic testing revealed a FLCN gene mutation confirming BHD syndrome. This is the first case report in the literature on the use of IBV for the management of pneumothorax in BHD. IBVs are emerging as a new minimally invasive therapy to be considered in patients who develop spontaneous pneumothoraces with persistent air leaks and underlying lung disease leading to fewer surgical interventions and pleurodesis.

Case studies are freely available to download in the BHD Article Library: Clinical Research.