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

doi:10.1016/j.ejmg.2022.104575

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 journal › Journal article › Research › peer-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 language	English
Article number	104575
Journal	European Journal of Medical Genetics
Volume	65
Issue number	10
ISSN	1769-7212
DOIs	https://doi.org/10.1016/j.ejmg.2022.104575
Publication status	Published - Oct 2022

Keywords

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

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10.1016/j.ejmg.2022.104575Licence: CC BY-NC-ND

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Dupuis-Girod, S., Shovlin, C. L., Kjeldsen, A. D., Mager, H-J., Sabba, C., Droege, F., Fargeton, A-E., Fialla, A. D., Gandolfi, S., Hermann, R., Lenato, G. M., Manfredi, G., Post, M. C., Rennie, C., Suppressa, P., Sure, U., Buscarini, E., & ePag group (2022). European reference network for rare vascular diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)? European Journal of Medical Genetics, 65(10), [104575]. https://doi.org/10.1016/j.ejmg.2022.104575

@article{17b6293a59c141e995090872f9f16bfe,

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

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.",

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

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

year = "2022",

month = oct,

doi = "10.1016/j.ejmg.2022.104575",

language = "English",

volume = "65",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson",

number = "10",

}

Dupuis-Girod, S, Shovlin, CL, Kjeldsen, AD, Mager, H-J, Sabba, C, Droege, F, Fargeton, A-E, Fialla, AD, Gandolfi, S, Hermann, R, Lenato, GM, Manfredi, G, Post, MC, Rennie, C, Suppressa, P, Sure, U, Buscarini, E & ePag group 2022, 'European reference network for rare vascular diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?', European Journal of Medical Genetics, vol. 65, no. 10, 104575. https://doi.org/10.1016/j.ejmg.2022.104575

European reference network for rare vascular diseases (VASCERN) : When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)? / Dupuis-Girod, Sophie; Shovlin, Claire L; Kjeldsen, Anette D et al.

In: European Journal of Medical Genetics, Vol. 65, No. 10, 104575, 10.2022.

Research output: Contribution to journal › Journal article › Research › peer-review

TY - JOUR

T1 - European reference network for rare vascular diseases (VASCERN)

T2 - When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?

AU - Dupuis-Girod, Sophie

AU - Shovlin, Claire L

AU - Kjeldsen, Anette D

AU - Mager, Hans-Jurgen

AU - Sabba, Carlo

AU - Droege, Freya

AU - Fargeton, Anne-Emmanuelle

AU - Fialla, Annette D

AU - Gandolfi, Silvia

AU - Hermann, Ruben

AU - Lenato, Gennaro M

AU - Manfredi, Guido

AU - Post, Marco C

AU - Rennie, Catherine

AU - Suppressa, Patrizia

AU - Sure, Ulrich

AU - Buscarini, Elisabetta

AU - ePag group

PY - 2022/10

Y1 - 2022/10

N2 - 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.

AB - 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.

KW - Arteriovenous Malformations

KW - Bevacizumab/therapeutic use

KW - Epistaxis/drug therapy

KW - Humans

KW - Rare Diseases

KW - Telangiectasia, Hereditary Hemorrhagic/drug therapy

U2 - 10.1016/j.ejmg.2022.104575

DO - 10.1016/j.ejmg.2022.104575

M3 - Journal article

C2 - 35940549

VL - 65

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 10

M1 - 104575

ER -

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

Abstract

Keywords

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