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Revue médicale suisse · May 2016
[Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): clinical manifestations and multidisciplinary management].
- Cecilia Frigerio, Nicole Aebischer, David Baud, Luisa Bonafe, Florence Fellmanne, Christos Ikonomidis, Lucia Mazzolai, Patrik Michel, Cristina Nichita, Salah Dine Qanadli, and Romain Lazor.
- Rev Med Suisse. 2016 May 4; 12 (517): 896-901.
AbstractHereditary hemorrhagic telangiectasia (HHT), or Osler- Weber-Rendu syndrome, is a rare genetic disorder with autosomal dominant inheritance, characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs), which may lead to severe complications. The diagnosis of HHT is often delayed due to the rarity of the disease, and the variety of clinical manifestations. The management of HHT includes systematic screening for visceral AVMs at regular intervals, preventive interventions to reduce the risk of complications, and symptomatic measures. A multidisciplinary standardized program in specialised centers may improve the management of patients with HHT.
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