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

• DOI: 10.1016/j.ejmg.2021.104370
• Publication Date: 2021-11-01T06:58:19Z
• Authors: C.L. Shovlin; E. Buscarini; C. Sabbà; H.J. Mager; A.D. Kjeldsen; F. Pagella; U. Sure; S. Ugolini; P.M. Torring; P. Suppressa; C. Rennie; M.C. Post; M.C. Patel; T.H. Nielsen; G. Manfredi; G.M. Lenato; D. Lefroy; U. Kariholu; B. Jones; A.D. Fialla; O.F. Eker; O. Dupuis; F. Droege; N. Coote; E. Boccardi; A. Alsafi; S. Alicante; S. Dupuis-Girod
• Keywords: Disease management; Rare disease

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 working group dedicated to HHT what became the Reference Network on Rare Multisystemic Vascular Diseases. By launch, combined experience exceeded 10,000 patients, and Chairs representing 7 separate specialties provided median of 24 years' in HHT. Integrated were expert patients who focused discussions patient experience. Following 2016-2017 survey capture priorities, underpinned by more than 40 monthly meetings, new data acquisitions, VASCERN generated position statements that distinguish care from non-expert practice. Leadership was specialists relevant sub-discipline(s), 100% consensus required amongst all clinicians before published or disseminated. One major outputs targeted healthcare professionals their include Orphanet definition; Do's Don'ts for common situations; Outcome Measures suitable consultations; COVID-19; anticoagulation. The second output span aspects pathophysiology where greater understanding will assist organ-specific specialist provide informed patients. These cover cerebral malformations screening; mucocutaneous differential diagnosis; anti-angiogenic therapies; circulatory interplays between anaemia arteriovenous malformations; microbiological strategies counteract loss normal pulmonary capillary function. Overall, integrated outputs, documented current practices, frameworks approaches augment health safety diverse health-care settings.