Maladie de Rendu-Osler. Manifestations cliniques et prise en charge multidisciplinaire [Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): clinical manifestations and multidisciplinary management]

Détails

ID Serval
serval:BIB_215A93D41A26
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Maladie de Rendu-Osler. Manifestations cliniques et prise en charge multidisciplinaire [Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): clinical manifestations and multidisciplinary management]
Périodique
Revue medicale suisse
Auteur(s)
Frigerio C., Aebischer N., Baud D., Bonafe L., Fellmanne F., Ikonomidis C., Mazzolai L., Michel P., Nichita C., Qanadli S.D., Lazor R.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Statut éditorial
Publié
Date de publication
04/05/2016
Peer-reviewed
Oui
Volume
12
Numéro
517
Pages
896-901
Langue
français
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Résumé
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 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.

Mots-clé
Genotype, Humans, Patient Care Team, Phenotype, Telangiectasia, Hereditary Hemorrhagic/diagnosis, Telangiectasia, Hereditary Hemorrhagic/genetics, Telangiectasia, Hereditary Hemorrhagic/therapy
Pubmed
Création de la notice
28/11/2016 13:32
Dernière modification de la notice
20/08/2019 12:57
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