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Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG)
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Based on Evidence European (BEE) Meeting
First Edition BEE Meeting | 25th May, 2023

Research

Year 1: Collaborative Publications

Executive summary of the 12th HHT international scientific conference. Andrejecsk JW, Hosman AE, Botella LM, Shovlin CL, Arthur HM, Dupuis-Girod S, Buscarini E, Hughes CCW, Lebrin F, Mummery CL, Post MC, Mager JJ. Angiogenesis.2017 Nov 16.doi: 10.1007/s10456-017-9585-2. [Epub ahead of print] PMID: 29147802

Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts.  Shovlin CL, Buscarini E, Hughes JMB, Allison DJ, Jackson JE. BMJ Open Respir Res. 2017 Oct 13;4(1):e000198. doi: 10.1136/bmjresp-2017-000198. eCollection 2017.PMID: 29071074

*The Lung in Hereditary Hemorrhagic Telangiectasia. Dupuis-Girod S, Cottin V, Shovlin CL. Respiration. 2017;94(4):315-330. doi: 10.1159/000479632. Epub 2017 Aug 30. PMID: 28850955

Response to Bevacizumab for the treatment of Rendu-Osler disease-A note of caution.Dupuis-Girod S, Buscarini E.Liver Int. 2017 Jun;37(6):928. doi: 10.1111/liv.13385. No abstract available. PMID: 28544692

Year 2 : Collaborative Publications 

*Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, Suppressa P, Zarrabeitia R, Dupuis-Girod S, Shovlin CL; VASCERN-HHT. Orphanet J Rare Dis. 2019 Feb 4;14(1):28. doi: 10.1186/s13023-018-0982-4. PMID: 30717761 Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2.

*European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT). Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791.

*Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination. Shovlin C, Bamford K, Sabbà C, Mager HJ, Kjeldsen A, Droege F, Buscarini E, Dupuis-Girod S; VASCERN HHT. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791. No abstract available.

Year 3-5 : Collaborative Publications 

*Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabbà C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E; VASCERN-HHT. Orphanet J Rare Dis. 2019 Aug 28;14(1):210. doi: 10.1186/s13023-019-1179-1.

*European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT). Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL. Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. PMID: 32600364.

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei, Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J,– Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. PMID: 32894695.

*The European rare disease network for HHT frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care. Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Toerring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, Fialla AD, Eker OF, Dupuis O, Droege F, Coote N, Boccardi E, Alsafi A, Alicante S, Dupuis-Girod S. Eur J Med Genet. 2021 Nov 1:104370. doi: 10.1016/j.ejmg.2021.104370. Online ahead of print.
PMID: 34737116.

*European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)? Dupuis-Girod S, Shovlin CL, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Fargeton AE, Fialla AD, Gandolfi S, Hermann R, Lenato GM, Manfredi G, Post MC, Rennie C, Suppressa P, Sure U; ePag group, Buscarini E. Eur J Med Genet. 2022 Aug 5;65(10):104575. doi: 10.1016/j.ejmg.2022.104575. Epub ahead of print. PMID: 35940549.

*=VASCERN acknowledged

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