Article
[Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): clinical manifestations and multidisciplinary management].
Revue medicale suisse - 4 May 2016
Frigerio Cecilia, Aebischer Nicole, Baud David, Bonafe Luisa, Fellmanne Florence, Ikonomidis Christos, Mazzolai Lucia, Michel Patrik, Nichita Cristina, Qanadli Salah Dine, Lazor Romain
Abstract excerpt
Hereditary 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...
Topics
- Genotype
- Humans
- Patient Care Team
- Phenotype
- Telangiectasia, Hereditary Hemorrhagic