European reference network for rare vascular diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?

Sophie Dupuis-Girod*, Claire L Shovlin, Anette D Kjeldsen, Hans-Jurgen Mager, Carlo Sabba, Freya Droege, Anne-Emmanuelle Fargeton, Annette D Fialla, Silvia Gandolfi, Ruben Hermann, Gennaro M Lenato, Guido Manfredi, Marco C Post, Catherine Rennie, Patrizia Suppressa, Ulrich Sure, Elisabetta Buscarini*, ePag group

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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Abstract

Hereditary haemorrhagic telangiectasia (HHT) is a rare vascular multisystemic disease that leads to epistaxis, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT prevalence is estimated at 1/6000, i.e. around 85,000 European citizens, and is served by the European Reference Network for Rare Multisystemic Vascular Diseases (VASCERN). HHT treatments depend on clinical manifestations, and span multiple different medical, surgical and interventional disciplines. Separate to local treatments in the nose, in severe settings, intravenous bevacizumab has been proposed as treatment option, and the purpose of the current article is to assess the use of intravenous bevacizumab in patients with HHT in 2022 according to available data.

Original languageEnglish
Article number104575
JournalEuropean Journal of Medical Genetics
Volume65
Issue number10
ISSN1769-7212
DOIs
Publication statusPublished - Oct 2022

Keywords

  • Arteriovenous Malformations
  • Bevacizumab/therapeutic use
  • Epistaxis/drug therapy
  • Humans
  • Rare Diseases
  • Telangiectasia, Hereditary Hemorrhagic/drug therapy

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