Imperial College London

Professor Claire Shovlin

Faculty of MedicineNational 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:2010:10.1016/j.blre.2010.07.001,
author = {Shovlin, CL},
doi = {10.1016/j.blre.2010.07.001},
journal = {Blood Reviews},
pages = {203--219},
title = {Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.},
url = {http://dx.doi.org/10.1016/j.blre.2010.07.001},
volume = {24},
year = {2010}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Hereditary haemorrhagic telangiectasia, inherited as an autosomal dominant trait, affects approximately 1 in 5000 people. The abnormal vascular structures in HHT result from mutations in genes (most commonly endoglin or ACVRL1) whose protein products influence TGF-ß superfamily signalling in vascular endothelial cells. The cellular mechanisms underlying the generation of HHT telangiectasia and arteriovenous malformations are being unravelled, with recent data focussing on a defective response to angiogenic stimuli in particular settings. For affected individuals, there is often substantial morbidity due to sustained and repeated haemorrhages from telangiectasia in the nose and gut. Particular haematological clinical challenges include the management of severe iron deficiency anaemia; handling the intricate balance of antiplatelet or anticoagulants for HHT patients in whom there are often compelling clinical reasons to use such agents; and evaluation of apparently attractive experimental therapies promoted in high profile publications when guidelines and reviews are quickly superseded. There is also a need for sound screening programmes for silent arteriovenous malformations. These occur commonly in the pulmonary, cerebral, and hepatic circulations, may haemorrhage, but predominantly result in more complex pathophysiology due to consequences of defective endothelium, or shunts that bypass specific capillary beds. This review will focus on the new evidence and concepts in this complex and fascinating condition, placing these in context for both clinicians and scientists, with a particular emphasis on haematological settings.
AU - Shovlin,CL
DO - 10.1016/j.blre.2010.07.001
EP - 219
PY - 2010///
SN - 1532-1681
SP - 203
TI - Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
T2 - Blood Reviews
UR - http://dx.doi.org/10.1016/j.blre.2010.07.001
UR - http://hdl.handle.net/10044/1/22167
VL - 24
ER -