The European rare disease network for HHT frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.
File(s)VASCERN HHT Frameworks, EMJG 2021 as acceped.pdf (1.45 MB)
Accepted version
Author(s)
Type
Journal 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 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.
Date Issued
2022-10-01
Date Acceptance
2021-10-26
Citation
European Journal of Medical Genetics, 2022, 65 (1), pp.104370-104370
ISSN
1769-7212
Publisher
Elsevier
Start Page
104370
End Page
104370
Journal / Book Title
European Journal of Medical Genetics
Volume
65
Issue
1
Copyright Statement
© 2021 Published by Elsevier Masson SAS.
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/34737116
PII: S1769-7212(21)00236-6
Subjects
Genetics & Heredity
0604 Genetics
1103 Clinical Sciences
Publication Status
Published online
Coverage Spatial
Netherlands
Date Publish Online
2021-11-01