Severe haemophilia A with haemarthrosis improved on emicizumab: A case report

Mustafa Wasifuddin; Ibrahim Al-Gaithi

doi:10.2478/jhp-2025-0004

Abstract

Abstract Introduction

Severe haemophilia A is associated with serious spontaneous bleeding in muscles, soft tissues, and joints. Haemarthrosis, bleeding into joints, is a serious complication of haemophilia. Emicizumab is a novel non-factor replacement agent for preventing or reducing the frequency of bleeding episodes in adults and children with haemophilia A with or without inhibitors.

Case presentation

In this case report, we discuss the case of a 10-year-old child with severe haemophilia A without inhibitors. He was initially managed with on-demand and prophylactic plasma-derived factor VIII and, after complications due to haemarthrosis, emicizumab. Treatment with emicizumab was associated with improved quality of life.

Conclusion

This case report shows that disease-related complications, particularly haemarthrosis, and health-related quality of life can be improved after the initiation of emicizumab.

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References

1. Kaneda M, Kawasaki R, Matsumoto N, et al. Detailed analysis of anti-emicizumab antibody decreasing drug efficacy, using plasma samples from a patient with hemophilia A. J Thromb Haemost 2021; 19: 2938–46. doi: https://doi.org/10.1111/jth.15506.
2. Kulkarni R, Soucie JM. Pediatric hemophilia: a review. Semin Thromb Hemost 2011; 37: 737–44. doi: https://doi.org/10.1055/s-0031-1297164.
3. Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Guidelines for the management of hemophilia. Haemophilia 2013; 19: e1–47. doi: https://doi.org/10.1111/j.1365-2516.2012.02909.x.
4. Berntorp E, Shapiro AD. Modern haemophilia care. Lancet 2012; 379: 1447–56. doi: https://doi.org/10.1016/S0140-6736(11)61139-2.
5. Roosendaal G, Lafeber FP. Pathogenesis of haemophilic arthropathy. Haemophilia 2006; 12 Suppl 3: 117–21. doi: https://doi.org/10.1111/j.1365-2516.2006.01268.x.
6. Kuijlaars I a. R, Timmer MA, de Kleijn P, Pisters MF, Fischer K. Monitoring joint health in haemophilia: Factors associated with deterioration. Haemophilia 2017; 23: 934–40. doi: https://doi.org/10.1111/hae.13327.
7. Witmer C, Young G. Factor VIII inhibitors in hemophilia A: rationale and latest evidence. Ther Adv Hematol 2013; 4: 59–72. doi: https://doi.org/10.1177/2040620712464509.
8. Blair HA. Emicizumab: A review in haemophilia A. Drugs 2019; 79: 1697–707. doi: https://doi.org/10.1007/s40265-019-01200-2.
9. US Food and Drug Administration. FDA approves emicizumabkxwh for hemophilia A with or without factor VIII inhibitors. 2019. Available from https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-emicizumab-kxwhhemophilia-or-without-factor-viii-inhibitors (accessed 12 November 2022).
10. Young G, Liesner R, Chang T, et al. A multicenter, open-label phase 3 study of emicizumab prophylaxis in children with hemophilia A with inhibitors. Blood 2019; 134: 2127–38. doi: https://doi.org/10.1182/blood.2019001869.
11. Shima M, Nogami K, Nagami S, et al. A multicentre, open-label study of emicizumab given every 2 or 4 weeks in children with severe haemophilia A without inhibitors. Haemophilia 2019; 25: 979–87. doi: https://doi.org/10.1111/hae.13848.
12. Mancuso ME, Mahlangu J, Sidonio R, et al. Health-related quality of life and caregiver burden of emicizumab in children with haemophilia A and factor VIII inhibitors-Results from the HAVEN 2 study. Haemophilia 2020; 26: 1009–18. doi: https://doi.org/10.1111/hae.14183.
13. Knobe K, Berntorp E. Haemophilia and joint disease: pathophysiology, evaluation, and management. J Comorbidity 2011; 1: 51–9. doi: https://doi.org/10.15256/joc.2011.1.2.
14. Raffini L, Manno C. Modern management of haemophilic arthropathy. Br J Haematol 2007; 136: 777–87. doi: https://doi.org/10.1111/j.1365-2141.2007.06490.x.
15. Manco-Johnson MJ, Abshire TC, Shapiro AD, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med 2007; 357: 535–44. doi: https://doi.org/10.1056/NEJMoa067659.
16. Khawaji M, Astermark J, Akesson K, Berntorp E. Physical activity and joint function in adults with severe haemophilia on long-term prophylaxis. Blood Coagul Fibrinolysis 2011; 22: 50–5. doi: https://doi.org/10.1097/MBC.0b013e32834128c6.
17. Coppola A, Di Capua M, De Simone C. Primary prophylaxis in children with haemophilia. Blood Transfus 2008; 6 Suppl 2:s 4–11. doi: https://doi.org/10.2450/2008.0030-08.
18. Mauser-Bunschoten EP, Fransen Van De Putte DE, Schutgens REG. Co-morbidity in the ageing haemophilia patient: the down side of increased life expectancy. Haemophilia 2009; 15: 853–63. doi: https://doi.org/10.1111/j.1365-2516.2009.01987.x.
19. Soucie JM, Cianfrini C, Janco RL, et al. Joint range-of-motion limitations among young males with hemophilia: prevalence and risk factors. Blood 2004; 103: 2467–73. doi: https://doi.org/10.1182/blood-2003-05-1457.
20. Mannucci PM. Hemophilia therapy: the future has begun. Haematologica 2020; 105: 545–53. doi: https://doi.org/10.3324/haematol.2019.232132.
21. Cafuir L, Kruse-Jarres R, Mancuso ME, Kempton CL. Emicizumab for hemophilia A without inhibitors. Expert Rev Hematol 2019; 12: 515–24. doi: https://doi.org/10.1080/17474086.2019.1624519.
22. Oldenburg J, Mahlangu JN, Kim B, et al. Emicizumab prophylaxis in hemophilia A with inhibitors. N Engl J Med 2017; 377: 809–18. doi: https://doi.org/10.1056/NEJMoa1703068.
23. Mahlangu J, Oldenburg J, Paz-Priel I, et al. Emicizumab prophylaxis in patients who have hemophilia A without inhibitors. N Engl J Med 2018; 379: 811–22. doi: https://doi.org/10.1056/NEJMoa1803550.
24. Pipe SW, Shima M, Lehle M, et al. Efficacy, safety, and pharmacokinetics of emicizumab prophylaxis given every 4 weeks in people with haemophilia A (HAVEN 4): a multicentre, open-label, non-randomised phase 3 study. Lancet Haematol 2019; 6: e295–305. doi: https://doi.org/10.1016/S2352-3026(19)30054-7.
25. Callaghan MU, Negrier C, Paz-Priel I, et al. Long-term outcomes with emicizumab prophylaxis for hemophilia A with or without FVIII inhibitors from the HAVEN 1–4 studies. Blood 2021; 137: 2231–42. doi: https://doi.org/10.1182/blood.2020009217.
26. Srivastava A, Santagostino E, Dougall A, et al. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia 2020; 26 Suppl 6: 1–158. doi: https://doi.org/10.1111/hae.14046.

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Authors

Mustafa Wasifuddin

Department of Medicine, Brookdale University Hospital and Medical Center, Brooklyn, New York, USA
Ibrahim Al-Gaithi

ibrahim.alghaithi@gmail.com

Department of Pediatric Hematology/Oncology, Royal Hospital, Ministry of Health, Muscat, Oman .