The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care
Shovlin, C. L.; Buscarini, E.; Sabbà, C.; Mager, H. J.; Kjeldsen, A. D.; Pagella, F.; Sure, U.; Ugolini, S.; Torring, P. M.; Suppressa, P.; Rennie, C.; Post, M. C.; Patel, M. C.; Nielsen, T. H.; Manfredi, G.; Lenato, G. M.; Lefroy, D.; Kariholu, U.; Jones, B.; Fialla, A. D.; Eker, O. F.; Dupuis, O.; Droege, F.; Coote, N.; Boccardi, E.; Alsafi, A.; Alicante, S.; Dupuis-Girod, S.
(2022) European Journal of Medical Genetics, volume 65, issue 1
(Article)
Abstract
Hereditary haemorrhagic telangiectasia (HHT) is a complex, multisystemic vascular dysplasia affecting approximately 85,000 European Citizens. In 2016, eight founding centres operating within 6 countries, set up a working group dedicated to HHT within what became the European Reference Network on Rare Multisystemic Vascular Diseases. By launch, combined experience exceeded 10,000
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HHT patients, and Chairs representing 7 separate specialties provided a median of 24 years' experience in HHT. Integrated were expert patients who focused discussions on the patient experience. Following a 2016–2017 survey to capture priorities, and underpinned by more than 40 monthly meetings, and new data acquisitions, VASCERN HHT generated position statements that distinguish expert HHT care from non-expert HHT practice. Leadership was by specialists in the relevant sub-discipline(s), and 100% consensus was required amongst all clinicians before statements were published or disseminated. One major set of outputs targeted all healthcare professionals and their HHT patients, and include the new Orphanet definition; Do's and Don'ts for common situations; Outcome Measures suitable for all consultations; COVID-19; and anticoagulation. The second output set span aspects of vascular pathophysiology where greater understanding will assist organ-specific specialist clinicians to provide more informed care to HHT patients. These cover cerebral vascular malformations and screening; mucocutaneous telangiectasia and differential diagnosis; anti-angiogenic therapies; circulatory interplays between anaemia and arteriovenous malformations; and microbiological strategies to counteract loss of normal pulmonary capillary function. Overall, the integrated outputs, and documented current practices, provide frameworks for approaches that augment the health and safety of HHT patients in diverse health-care settings.
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Keywords: Genetics, Genetics(clinical)
ISSN: 1769-7212
Publisher: Elsevier Masson SAS
Note: Funding Information: The face to face meetings for this publication were supported by VASCERN which is partly co-funded by the European Union within the framework of the Third Health Programme " VASCERN Framework Partnership Agreement (March 2017–February 2022)”, Project ID: 769036. VASCERN Specific Grant Agreement for the next 3 years (March 2019–February 2022): 847081. Publisher Copyright: © 2021
(Peer reviewed)