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

Details

Serval ID
serval:BIB_215A93D41A26
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
Maladie de Rendu-Osler. Manifestations cliniques et prise en charge multidisciplinaire [Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): clinical manifestations and multidisciplinary management]
Journal
Revue medicale suisse
Author(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
Publication state
Published
Issued date
04/05/2016
Peer-reviewed
Oui
Volume
12
Number
517
Pages
896-901
Language
french
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Abstract
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.

Keywords
Genotype, Humans, Patient Care Team, Phenotype, Telangiectasia, Hereditary Hemorrhagic/diagnosis, Telangiectasia, Hereditary Hemorrhagic/genetics, Telangiectasia, Hereditary Hemorrhagic/therapy
Pubmed
Create date
28/11/2016 14:32
Last modification date
20/08/2019 13:57
Usage data