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{Eker:2020,
author = {Eker, OF and Boccardi, E and Sure, U and Patel, MC and Alicante, S and Alsafi, A and Coote, N and Droege, F and Dupuis, O and Fialla, AD and Jones, B and Kariholu, U and Kjeldsen, AD and Lefroy, D and Lenato, GM and Mager, HJ and Manfredi, G and Nielson, TH and Pagella, F and Post, MC and Rennie, C and Sabba, C and Suppressa, P and Torring, PM and Ugolini, S and Buscarini, E and Dupuis-Girod, S and Shovlin, CL},
journal = {Orphanet Journal of Rare Diseases},
title = {European Reference Network for Rare Vascular Diseases (VASCERN) Position Statement on Cerebral Screening in Adults and Children with Hereditary Haemorrhagic Telangiectasia (HHT)},
url = {http://hdl.handle.net/10044/1/78918},
volume = {15},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion being cerebral arteriovenous malformations (AVMs) and fistulae that may lead to potentially devastating consequences in case of rupture. On the other hand, detection and treatment related-risks are not negligible, and immediate. While successful treatment can be undertaken in individual cases, current data do not support the treatment of unruptured AVMs, which also present a low risk of bleeding in HHT patients. Screening for these AVMs is therefore controversial.Structured discussions, distinctions of different cerebrovascular abnormalities commonly grouped into an “AVM” bracket, and clear guidance by neurosurgical and neurointerventional radiology colleagues enabled the European Reference Network for Rare Vascular Disorders (VASCERN-HHT) to develop the following agreed Position Statement on cerebral screening:1) First, we emphasise that neurological symptoms suggestive of cerebral AVMs in HHT patients should be investigated as in general neurological and emergency care practice. Similarly, if an AVM is found accidentally, management approaches should rely on expert discussions on a case-by-case basis and individual risk-benefit evaluation of all therapeutic possibilities for a specific lesion.2) The current evidence base does not favour the treatment of unruptured cerebral AVMs, and therefore cannot be used to support widespread screening of asymptomatic HHT patients.3) Individual situations encompass a wide range of personal, cultural and clinical states. In order to enable informed patient choice, and avoid conflicting advice, particularly arising from non-neurovascular interpretations of the evidence base, we suggest that all HHT patients should have the opportunity to discuss knowingly brain screening issues with their healthcare provider.4) Any
AU  - Eker,OF
AU  - Boccardi,E
AU  - Sure,U
AU  - Patel,MC
AU  - Alicante,S
AU  - Alsafi,A
AU  - Coote,N
AU  - Droege,F
AU  - Dupuis,O
AU  - Fialla,AD
AU  - Jones,B
AU  - Kariholu,U
AU  - Kjeldsen,AD
AU  - Lefroy,D
AU  - Lenato,GM
AU  - Mager,HJ
AU  - Manfredi,G
AU  - Nielson,TH
AU  - Pagella,F
AU  - Post,MC
AU  - Rennie,C
AU  - Sabba,C
AU  - Suppressa,P
AU  - Torring,PM
AU  - Ugolini,S
AU  - Buscarini,E
AU  - Dupuis-Girod,S
AU  - Shovlin,CL
PY  - 2020///
SN  - 1750-1172
TI  - European Reference Network for Rare Vascular Diseases (VASCERN) Position Statement on Cerebral Screening in Adults and Children with Hereditary Haemorrhagic Telangiectasia (HHT)
T2  - Orphanet Journal of Rare Diseases
UR  - http://hdl.handle.net/10044/1/78918
VL  - 15
ER  -
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