New article from the VASCERN HHT WG and their outputs in the VASCERN special issue of EJMG!

A new article entitled The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care has just been published in the VASCERN Special Issue of the European Journal of Medical Genetics. It is co-authored by members of the Hereditary Haemorrhagic Telangiectasia (HHT) working group.

Read the full open-access article here

This article gives a comprehensive overview of the work done in the first five years by the HHT-WG, including their outcome measures, Pills of Knowledge (PoK) videos, Do’s and Don’ts factsheets, and much more!

“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.”

This is the first article to be published in the European Journal of Medical GeneticsSpecial Issue: VASCERN, the European Reference Network on Rare Multisystemic Vascular Diseases. In the coming months, many more articles will be published in this special issue from each of our Rare Disease Working Groups (RDWGs). They will all be available in open-access so that they can be shared and read by all.

Reference: Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, Fialla AD, Eker OF, Dupuis O, Droege F, Coote N, Boccardi E, Alsafi A, Alicante S, Dupuis-Girod S. The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care. Eur J Med Genet. 2022 Jan;65(1):104370. doi: 10.1016/j.ejmg.2021.104370. Epub 2021 Nov 1. PMID: 34737116.

Comments are closed