Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) : clinical manifestations and multidisciplinary management
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.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2016 |
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| Erschienen: |
2016 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:12 |
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| Enthalten in: |
Revue medicale suisse - 12(2016), 517 vom: 04. Mai, Seite 896-901 |
| Sprache: |
Französisch |
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| Weiterer Titel: |
Maladie de Rendu-Osler. Manifestations cliniques et prise en charge multidisciplinaire |
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| Beteiligte Personen: |
Frigerio, Cecilia [VerfasserIn] |
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| Themen: |
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| Anmerkungen: |
Date Completed 08.07.2016 Date Revised 21.06.2016 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM261583115 |
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| 245 | 1 | 0 | |a Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) |b clinical manifestations and multidisciplinary management |
| 246 | 3 | 3 | |a Maladie de Rendu-Osler. Manifestations cliniques et prise en charge multidisciplinaire |
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| 500 | |a Date Completed 08.07.2016 | ||
| 500 | |a Date Revised 21.06.2016 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a 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 | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Aebischer, Nicole |e verfasserin |4 aut | |
| 700 | 1 | |a Baud, David |e verfasserin |4 aut | |
| 700 | 1 | |a Bonafe, Luisa |e verfasserin |4 aut | |
| 700 | 1 | |a Fellmanne, Florence |e verfasserin |4 aut | |
| 700 | 1 | |a Ikonomidis, Christos |e verfasserin |4 aut | |
| 700 | 1 | |a Mazzolai, Lucia |e verfasserin |4 aut | |
| 700 | 1 | |a Michel, Patrik |e verfasserin |4 aut | |
| 700 | 1 | |a Nichita, Cristina |e verfasserin |4 aut | |
| 700 | 1 | |a Qanadli, Salah Dine |e verfasserin |4 aut | |
| 700 | 1 | |a Lazor, Romain |e verfasserin |4 aut | |
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