Imperial College London
Alternate

Claire L. Shovlin PhD FRCP

Faculty of Medicine, National Heart & Lung Institute

Professor of Practice (Clinical and Molecular Medicine)
 
 
 
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Contact

 

c.shovlin Website

 
 
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Location

 

534Block L Hammersmith HospitalHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Shovlin:2022:10.1016/j.ejmg.2021.104370,
author = {Shovlin, CL and Buscarini, E and Sabbà, C and Mager, HJ and Kjeldsen, AD and Pagella, F and Sure, U and Ugolini, S and Toerring, PM and Suppressa, P and Rennie, C and Post, MC and Patel, MC and Nielsen, TH and Manfredi, G and Lenato, GM and Lefroy, D and Kariholu, U and Jones, B and Fialla, AD and Eker, OF and Dupuis, O and Droege, F and Coote, N and Boccardi, E and Alsafi, A and Alicante, S and Dupuis-Girod, S},
doi = {10.1016/j.ejmg.2021.104370},
journal = {European Journal of Medical Genetics},
pages = {104370--104370},
title = {The European rare disease network for HHT frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.},
url = {http://dx.doi.org/10.1016/j.ejmg.2021.104370},
volume = {65},
year = {2022}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - 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.
AU  - Shovlin,CL
AU  - Buscarini,E
AU  - Sabbà,C
AU  - Mager,HJ
AU  - Kjeldsen,AD
AU  - Pagella,F
AU  - Sure,U
AU  - Ugolini,S
AU  - Toerring,PM
AU  - Suppressa,P
AU  - Rennie,C
AU  - Post,MC
AU  - Patel,MC
AU  - Nielsen,TH
AU  - Manfredi,G
AU  - Lenato,GM
AU  - Lefroy,D
AU  - Kariholu,U
AU  - Jones,B
AU  - Fialla,AD
AU  - Eker,OF
AU  - Dupuis,O
AU  - Droege,F
AU  - Coote,N
AU  - Boccardi,E
AU  - Alsafi,A
AU  - Alicante,S
AU  - Dupuis-Girod,S
DO  - 10.1016/j.ejmg.2021.104370
EP  - 104370
PY  - 2022///
SN  - 1769-7212
SP  - 104370
TI  - The European rare disease network for HHT frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care.
T2  - European Journal of Medical Genetics
UR  - http://dx.doi.org/10.1016/j.ejmg.2021.104370
UR  - https://www.ncbi.nlm.nih.gov/pubmed/34737116
UR  - http://hdl.handle.net/10044/1/92930
VL  - 65
ER  -
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