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Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century
  1. M E Begbie1,
  2. G M F Wallace2,
  3. C L Shovlin1
  1. 1Respiratory Medicine, National Heart and Lung Institute, Imperial College Faculty of Medicine, Hammersmith Hospital, London
  2. 2Respiratory Medicine, Rayne Laboratories, University of Edinburgh
  1. Correspondence to:
 Dr Claire Shovlin, Respiratory Medicine, National Heart and Lung Institute, Imperial College Faculty of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK;
 c.shovlin{at}ic.ac.uk

Abstract

Hereditary haemorrhagic telangiectasia (HHT) affects one in 5−8000, and no longer can be viewed as solely causing anaemia (due to nasal and gastrointestinal bleeding) and characteristic mucocutaneous telangiectasia. Arteriovenous malformations commonly occur, and in the pulmonary and cerebral circulations demand knowledge of risks and benefits of asymptomatic screening and treatment. HHT is inherited as an autosomal dominant trait and there is no age cut off when apparently unaffected offspring of an individual with HHT can be told they are unaffected. This review focuses on the evolving evidence base for HHT management, issues regarding pregnancy and prothrombotic treatments, and discusses the molecular and cellular changes that underlie this disease.

  • hereditary haemorrhagic telangiectasia
  • Osler-Weber-Rendu syndrome
  • AVM, arteriovenous malformation
  • HHT, hereditary haemorrhagic telangiectasia
  • MRI, magnetic resonance imaging
  • TGF-β, transforming growth factor-beta

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