Hereditary Haemorrhagic Telangiectasia (HHT-WG)

Research Publications

Our publications cover a wide range of topics, including the latest research on diagnostic tools, innovative therapies, and management strategies for rare vascular diseases. This page provides a list of publications from the Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG) to help researchers and healthcare professionals stay up-to-date on the latest developments in the field.

Results (17)
























Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia: Long-term results of endoscopic treatment
December 15 2023

Manfredi G, Crinò SF, Alicante S, Romeo S, Berté R, Gandolfi S, Spinazzola A, Fiini M, Forner P, Buscarini E. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia: Long-term results of endoscopic treatment. Endosc Int Open. 2023 Dec 15;11(12):E1145-E1152. doi: 10.1055/a-2190-9303. PMID: 38108019; PMCID: PMC10723967.


Nonfunctional TGF-β/ALK1/ENG signaling pathway supports neutrophil proangiogenic activity in hereditary hemorrhagic telangiectasia
November 24 2023

Duerig I, Pylaeva E, Ozel I, Wainwright S, Thiel I, Bordbari S, Domnich M, Siakaeva E, Lakomek A, Toppe F, Schleupner C, Geisthoff U, Lang S, Droege F, Jablonska J. Nonfunctional TGF-β/ALK1/ENG signaling pathway supports neutrophil proangiogenic activity in hereditary hemorrhagic telangiectasia. J Leukoc Biol. 2023 Nov 24;114(6):639-650. doi: 10.1093/jleuko/qiad090. PMID: 37555392.


The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function
November 14 2023

Lyster AL, Biørn SH, Kjeldsen AD, Nielsen C, Lange B, Fialla AD, Vinholt PJ. The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function. Orphanet J Rare Dis. 2023 Nov 14;18(1):354. doi: 10.1186/s13023-023-02968-z. PMID: 37964294; PMCID: PMC10648329.


High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia
November 13 2023

Kofoed MS, Tørring PM, Christensen AA, Lange B, Kjeldsen AD, Nielsen TH. High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia. Eur J Neurol. 2024 Feb;31(2):e16128. doi: 10.1111/ene.16128. Epub 2023 Nov 13. PMID: 37955551.


Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis
June 10 2023

Xiang-Tischhauser L, Bette M, Rusche JR, Roth K, Kasahara N, Stuck BA, Bakowsky U, Wartenberg M, Sauer H, Geisthoff UW, Mandic R. Generation of a Syngeneic Heterozygous ACVRL1(wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis. Cells. 2023 Jun 10;12(12):1600. doi: 10.3390/cells12121600. PMID: 37371070; PMCID: PMC10297623.


Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study
May 04 2023

Suppressa P, Maiorano E, Gaetani E, Matti E, Lenato GM, Serio I, Masala MS, Passali GC, Aguglia M, Crocione C, Lopalco PL, Caneschi F, Musella V, De Silvestri A, Gambini G, Spinozzi G, Sabbà C, Pagella F. Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study. Intern Emerg Med. 2023 Jun;18(4):1109-1118. doi: 10.1007/s11739-023-03287-8. Epub 2023 May 4. PMID: 37140873; PMCID: PMC10157588.


European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?
March 28 2023

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. European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)? Eur J Med Genet. 2022 Oct;65(10):104575. doi: 10.1016/j.ejmg.2022.104575. Epub 2022 Aug 5. PMID: 35940549.


The European rare disease network for HHT frameworks for management of Hereditary Haemorrhagic Telangiectasia in general and speciality care
March 28 2023

Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring 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. The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care. Eur J Med Genet. 2022 Jan;65(1):104370. doi: 10.1016/j.ejmg.2021.104370. Epub 2021 Nov 1. PMID: 34737116.


Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
March 28 2023

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. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. PMID: 32894695.


European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with Hereditary Haemorrhagic Telangiectasia (HHT)
March 28 2023

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. European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT). Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. PMID: 32600364; PMCID: PMC7322871.


Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia
March 28 2023

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. Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Aug 28;14(1):210. doi: 10.1186/s13023-019-1179-1. PMID: 31462308; PMCID: PMC6714298.


Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination
March 28 2023

Shovlin C, Bamford K, Sabbà C, Mager HJ, Kjeldsen A, Droege F, Buscarini E, Dupuis-Girod S; VASCERN HHT. Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791. PMID: 30705116; PMCID: PMC6355489.


European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)
March 28 2023

Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S. European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT). Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2. PMID: 30111344; PMCID: PMC6094583.


Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia
March 28 2023

Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, Suppressa P, Zarrabeitia R, Dupuis-Girod S, Shovlin CL; VASCERN-HHT. Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Feb 4;14(1):28. doi: 10.1186/s13023-018-0982-4. PMID: 30717761; PMCID: PMC6360670.


The Lung in Hereditary Hemorrhagic Telangiectasia
March 28 2023

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


Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts
March 28 2023

Shovlin CL, Buscarini E, Hughes JMB, Allison DJ, Jackson JE. Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts. BMJ Open Respir Res. 2017 Oct 13;4(1):e000198. doi: 10.1136/bmjresp-2017-000198. PMID: 29071074; PMCID: PMC5652477.


Executive summary of the 12th HHT international scientific conference
March 28 2023

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. Executive summary of the 12th HHT international scientific conference. Angiogenesis. 2018 Feb;21(1):169-181. doi: 10.1007/s10456-017-9585-2. PMID: 29147802.


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