Treatment of hereditary haemorrhagic telangiectasia with bevacizumab – what more needs to be known?
  • Edmond Morrissey
    Department of Gastroenterology, Mercy University Hospital, Cork, Ireland
  • Daniel Schmidt-Martin
    Department of Gastroenterology, Mallow General Hospital, Cork, Ireland
  • Martin Buckley
    Department of Gastroenterology, Mercy University Hospital, Cork, Ireland

Keywords

Bleeding, Anaemia, Bevacizumab, Hereditary Haemorrhagic Telangiectasia, HHT

Abstract

Introduction: Hereditary haemorrhagic telangiectasia (HHT) is a rare multi-organ vascular disease. It is characterised by mucocutaneous telangiectasia, epistaxis, and arteriovenous malformations. Some 70% of patients with HHT are thought to have issues with gastrointestinal (GI) bleeding. Traditional management of GI bleeding in HHT includes monitoring for iron deficiency anaemia, iron replacement, antifibrinolytic therapy and control of identifiable bleeding sites with argon photocoagulation during gastrointestinal endoscopy. Blood transfusion may also be required.
Case description: Our case describes a man in his 40s with confirmed HHT, with transfusion-dependent anaemia secondary to GI bleeding. He was commenced on fortnightly bevacizumab (5 mg/kg) for 12 weeks in an attempt to reduce his blood transfusion requirement and manage his anaemia. In the months prior to starting bevacizumab, our patient’s transfusion requirement ranged from 3–5 units of packed red cells per month to maintain an Hb >8 g/dl. He had a marked improvement in his symptoms within the first month of treatment and did not require any further blood transfusion during the three months of treatment. He was given one further IV iron infusion in the final month of his 3-month bevacizumab treatment and did not experience any adverse side effects from bevacizumab.
Discussion: HHT results from alterations to genes which encode proteins involved in blood vessel formation. This provides the rationale for using anti VEGF drugs such as bevacizumab. Current evidence for this treatment approach is limited.
Conclusion: Bevacizumab can be an effective treatment option in patients with HHT refractory to traditional management.

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References

  • Dupuis-Girod S, Shovlin CL, Kjeldsen AD, Mager H-J, Sabba C, Droege F, et al. 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;65:104575.
  • Kjeldsen AD, Kjeldsen J. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2000;95:415–418.
  • Kritharis A, Al-Samkari H, Kuter DJ. Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective. Haematologica 2018;103:1433–1443.
  • Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66–67.
  • Mitchell A, Adams LA, MacQuillan G, Tibballs J, vanden Driesen R, Delriviere L. Bevacizumab reverses need for liver transplantation in hereditary hemorrhagic telangiectasia. Liver Transpl 2008;14:210–213.
  • Albitar HAH, Almodallal Y, Papadakis KA, Rajan E, Kamath PS, Iyer VN. Intravenous bevacizumab reduces transfusion requirements and endoscopic interventions in patients with gastric antral vascular ectasia and small bowel angioectasia. Gastroenterology 2020;158: 1162–1163.
  • Epperla N, Hocking W. Blessing for the bleeder: bevacizumab in hereditary hemorrhagic telangiectasia. Clin Med Res 2014;13:32–35.
  • Dupuis-Girod S, Rivière S, Lavigne C, Fargeton A-E, Gilbert-Dussardier B, Grobost V, et al. Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: a national, randomized multicenter trial. J Intern Med 2023;294:761–774.

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    Published: 2023-12-22
    Issue: 2024: Vol 11 No 1 (view)

    How to cite:
    1.
    Morrissey E, Schmidt-Martin D, Buckley M. Treatment of hereditary haemorrhagic telangiectasia with bevacizumab – what more needs to be known?. EJCRIM 2023;11 doi:10.12890/2023_004219.