The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care

作者：Claire L. Shovlin, Elisabetta Buscarini, Carlo Sabbà, Hans Jurgen Mager, Anette Drøhse Kjeldsen, Fabio Pagella, Ulrich Sure, Sara Ugolini, Pernille Mathiesen Tørring, Patrizia Suppressa, Catherine E. Rennie, Martijn C. Post, Mitesh Patel, Troels Halfeld Nielsen, Guido Manfredi, Gennaro Mariano Lenato, David C. Lefroy, Ujwal Kariholu, Bryony Anne Jones, Annette Dam Fialla, Omer Eker, Olivier Jean Marie Dupuis, Freya Droege, Nicole Coote, Edoardo Pietro Boccardi, Ali Alsafi, Saverio Alicante, Sophie Dupuis‐Girod · 发表于：European Journal of Medical Genetics · 年份：2021 · DOI：10.1016/j.ejmg.2021.104370 · 被引用次数：57 · 研究领域：Vascular Anomalies and Treatments、Tracheal and airway disorders、Pulmonary Hypertension Research and Treatments

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 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 telangiectasi...