VASCERN News
23 July 2024
Revision of Rare Vascular Tumors in the Orphanet Database
We are happy to announce that the Orphanet entry on Hereditary Haemorrhagic Telangiectasia (HHT) in the Orphanet Encyclopedia for Professionals has been updated by the VASCERN HHT-WG and is now online.
You can find the updated text here
The writing was a true collaborative effort by the HHT-WG who dedicated several working sessions at VASCERN Days 2018, and much of their time in the weeks before and afterwards, seeking consensus on a reworking, update and revision of the old 2010 text which was outdated. The review team included Consultants in Clinical Genetics, Paediatrics, Adult Internal Medicine, Cardiology, ENT Surgery, Gastroenterology, Hepatology, Neurosurgery, and Respiratory Medicine, in addition to HHT patient advocates.
The result is a summary text that is approved by both the patient advocates and healthcare professionals of the HHT-WG and contains the most accurate information on this rare vascular disease.
Orphanet, the portal for rare diseases and orphan drugs, gathers and produces resources on rare diseases in order to improve the diagnosis, care and treatment of rare disease patients. The summary texts in the Orphanet Encyclopedia for Professionals provide a clear and concise summary of the disease, with the following sections: disease definition, epidemiology, clinical description, etiology, diagnostic methods, differential diagnosis, antenatal diagnosis, genetic counseling, managements and treatment and prognosis. They are highly beneficial to the medical community and are widely referred to around the world.
The summary text on HHT will be eventually translated into the 7 languages of the Orphanet database (English, French, Spanish, Italian, German, Dutch, and Portuguese).
We would like to congratulate all of the members of the VASCERN HHT-WG on this achievement and for their commitment to providing the most up to date information on HHT to the international community.
To learn more about the VASCERN HHT-WG and meet its members, click here.
*METHODOLOGICAL NOTES
Areas requiring revision and new text options were initially developed during a telecon on 24th September 2018, and an email round-robin of possible changes. These proposals were discussed further face to face in Paris on 12th Oct 2018, in the presence of Annie Olry and Houda Ali from Orphanet. Orphanet requirements necessitated a further round of revisions accomplished by emails 12-13th October 2018, and final face to face discussions on 13th Oct 2018. The text was validated by all authors by email, submitted to Orphanet on 16th October 2018, and following requested modifications, was approved by all authors and published on 11th January 2019.
VASCERN’s HHT Orphanet Text Team were:
Claire SHOVLIN (UK), Saverio ALICANTE (Italy), Luisa BOTELLA (Spain), Nicky COOTE (UK), Claudia CROCIONE (Italy), Freya DROEGE (Germany), Didier ERASME (France), Anette KJELDSEN (Denmark), David LEFROY (UK), Gennaro Mariano LENATO (Italy), Hans-Jurgen MAGER (The Netherlands), Marco POST (The Netherlands), Carlo SABBÀ (Italy), Patrizia SUPPRESSA (Italy) ; Ulrich SURE (Germany), Pernille TØRRING (Denmark), Sara UGOLINI (Italy), Elisabetta BUSCARINI (Italy)*, and Sophie DUPUIS-GIROD (France)*
