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Hereditary haemorrhagic telangiectasia: a cause of preventable morbidity and mortality

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Abstract

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition whose effects are mediated through deficient blood vessel formation and regeneration, with multisystem involvement. Patients are usually aware of resulting skin telangiectasia and epistaxis, but are also exposed to dangers posed by occult vascular malformations in other organs. About 15–35% of HHT patients have pulmonary AVMs (PAVMs), 10% have cerebral AVMs (CAVMs), 25–33% suffer significant GI blood loss from GI tract telangiectasia, and an unknown but high percentage have liver involvement. In total, 10% of affected individuals die prematurely or suffer major disability from HHT, largely because of bleeding from CAVMs and PAVMs, or paradoxical embolization through PAVMs. Screening for and early intervention to treat occult PAVMs and CAVMs can largely eliminate these risks, and should be undertaken in a specialist centre. The National HHT Center in The Mercy University Hospital in Cork is the referral centre for HHT screening in Ireland.

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Acknowledgments

The authors would like to acknowledge the support, in terms of finance and educational support, of The Grace Nolan Foundation and the HHT Foundation International. Extensive support with respect to specific patients has also been given by the following: Dr. John Bourke, Mr. Gerry O’Leary, Mr. John Russell, Dr. Martin Buckley, Dr. Paul Brennan, Prof. Andrew Green and Dr. Brian Hennessy. Our involvement in the screening and management of patients with HHT has been extensively guided and aided by Prof. Bob White, Dr, Marie Faughnan and Ms. Kate Henderson.

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Authors and Affiliations

  1. National HHT Centre, Mercy University Hospital, Cork, Ireland

    A. P. Brady, M. M. Murphy & T. M. O’Connor

  2. Department of Radiology, Mercy University Hospital, Cork, Ireland

    A. P. Brady

  3. Department of Respiratory Medicine, Mercy University Hospital, Cork, Ireland

    T. M. O’Connor

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  1. A. P. Brady
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  2. M. M. Murphy
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  3. T. M. O’Connor
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Correspondence to A. P. Brady.

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Brady, A.P., Murphy, M.M. & O’Connor, T.M. Hereditary haemorrhagic telangiectasia: a cause of preventable morbidity and mortality. Ir J Med Sci 178, 135–146 (2009). https://doi.org/10.1007/s11845-008-0220-5

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