Thrombosis in patients with inherited coagulation factor disorders
https://doi.org/10.35754/0234-5730-2024-69-2-217-225
Abstract
Introduction. The main manifestation of hereditary coagulopathies is bleeding, but patients with these diseases are not protected from thrombotic complications.
Aim: to evaluate the frequency and nature of thrombotic complications in various bleeding disorders.
Main findings. In some bleeding disorders, such as von Willebrand disease, thromboses are extremely rare, while in others, such as dysfibrinogenemias, thrombosis is one of the key manifestations. For hemophilia A, there has recently been a significant expansion of treatment options. The use of some new drugs has already been associated with thrombotic complications in the clinical trial phase.
About the Authors
D. B. Florinskiy
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
Dmitriy B. Florinskiy, Cand. Sci. (Med.), hematologist of Outpatient Consultative Unit, Daily hospital department
117997, Moscow
P. A. Zharkov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
Pavel A. Zharkov, Dr. Sci. (Med.), hematologist of Outpatient Consultative Unit, Head of Laboratory of Hemostasis Pathology, Professor of the Department of Hematology and Cell Technologies
117997, Moscow
References
1. Vorobiev A.I., Plush O.P., Barkagan Z.S., et al. Protocol of hemophilia patient treatment. Problemy standartizatii v Zdravoochranenii. 2006; 3: 18–74. (In Russian).
2. Florinskiy D.B., Zharkov P.A. Rare bleeding disorders. Rossiyskiy zurnal detskoy gematologii I onkologii. 2020; 7(3): 54–63. (In Russian). DOI: 10.21682/2311-1267-2020-7-3-54-63.
3. Larsen J.B., Nielsen K.B.J., Poulsen L.H., et al. Arterial and Venous Thrombosis in Haemophilia Patients: Experiences from a Danish Haemophilia Centre. Acta Haematol. 2017; 138(2): 91–5. DOI: 10.1159/000477928.
4. Lutsey P.L., Zakai N.A. Epidemiology and prevention of venous thromboembolism. Nat Rev Cardiol. 2023; 20(4): 248–62. DOI: 10.1038/s41569-022-00787-6.
5. Salari N., Morddarvanjoghi F., Abdolmaleki A., et al. The global prevalence of myocardial infarction: a systematic review and meta-analysis. BMC Cardiovasc Disord. 2023; 23(1): 206–15. DOI: 10.1186/s12872-023-03231-w.
6. https://npcpn.ru/doc/2020/rf-kr-insult.pdf
7. Khan M.A., Hashim M.J., Mustafa H., et al. Global Epidemiology of Ischemic Heart Disease: Results from the Global Burden of Disease Study. Cureus. 2020; 12(7): e9349. DOI: 10.7759/cureus.9349.
8. Girolami A., Scandellari R., Zanon E., et al. Non-catheter associated venous thrombosis in hemophilia A and B. A critical review of all reported cases. J Thromb Thrombolysis. 2006; 21: 279–84 DOI: 10.1007/s11239-006-6556-7.
9. https://clinicaltrials.gov/search?intr=Mim8
10. Tagliaferri A., Rivolta G.F., Iorio A., et al. Mortality and causes of death in Italian persons with haemophilia, 1990–2007. Haemophilia. 2010; 16: 437–46. DOI: 10.1111/j.1365-2516.2009.02188.x.
11. Sood S.L., Cheng D., Ragni M., et al. A cross-sectional analysis of cardiovascular disease in the hemophilia population. Blood Adv. 2018; 2: 1325–33. DOI: 10.1182/bloodadvances.2018018226.
12. Hermans C. Venous thromboembolic disease in patients with haemophilia. Thromb Res. 2012; 130: 30–2. DOI: 10.1016/j.thromres.2012.08.274.
13. Kashyap R., Sharma L.M., Gupta S., et al. Deep vein thrombosis in a patient with severe haemophilia A. Haemophilia. 2006; 12: 87–9. DOI: 10.1111/j.1365-2516.2006.01179.x.
14. Galstyan G.M., Polevodova О.А., Gavrish A.Yu., et al. Thrombotic events in patients with hemophilia. Terapevticheskiy archiv. 2017: 89(7): 76–84. (In Russian). DOI: 10.17116/terarkh201789776-84.
15. Buckner T.W., Leavitt A.D., Ragni M., et al. Prospective, multicenter study of postoperative deep-vein thrombosis in patients with haemophilia undergoing major orthopaedic surgery. Thromb Haemost. 2016; 116: 42–9. DOI: 10.1160/TH15-10-0802.
16. Perez Botero J., Spoon D.B., Patnaik M.S., et al. Incidence of symptomatic venous thromboembolism in patients with hemophilia undergoing joint replacement surgery: a retrospective study. Thromb Res. 2015; 135(1): 109–13. DOI: 10.1016/j.thromres.2014.11.010.
17. Raza S., Kale G., Kim D., et al. Thromboprophylaxis and Incidence of Venous Thromboembolism in Patients With Hemophilia A or B Who Underwent High-Risk Orthopedic Surgeries. Clin Appl Thromb Hemost. 2016; 22(2): 161–5. DOI: 10.1177/1076029614543139.
18. Krekeler S., Alesci S., Miesbach W. Untersuchung zum postoperativen Verlauf bei Patienten mit Hamophilie. Hamostaseologie. 2012; 32 (Suppl 1): S45–7.
19. Shagdurova B.V., Kudriavtseva L.M., Tentsova I.A., et al. Acute myocardial infarction in a patient with severe hemophilia A and terminal stage of chronic renal failure. Nephrologiya I Dialys. 2003; 5(4): 405–9. (In Russian).
20. Callaghan M.U., 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(16): 2231–42. DOI: 10.1182/blood.2020009217.
21. Koparkar S., Barlera S., Nissen F., et al. Evaluation of the safety of emicizumab prophylaxis in people with haemophilia A: an updated summary of thrombotic events and thrombotic microangiopathies, European Association for Haemophilia and Allied Disorders (EAHAD) Annual Meeting (7–10 February 2023) Manchester, UK. 2023.
22. Young G., Lenting P.J., Croteau S.E., Nolan B., et al. Antithrombin lowering in hemophilia: a closer look at fitusiran. Res Pract Thromb Haemost. 2023; 7(4): 100179. DOI: 10.1016/j.rpth.2023.100179.
23. Shapiro A.D., Angchaisuksiri P., Astermark J., et al. Long-term efficacy and safety of subcutaneous concizumab prophylaxis in hemophilia A and hemophilia A/B with inhibitors. Blood Adv. 2022; 6(11): 3422–32. DOI: 10.1182/bloodadvances.2021006403.
24. Mahlangu J.N. Progress in the Development of Anti-tissue Factor Pathway Inhibitors for Haemophilia Management. Front Med. 2021; 5(8): 670526. DOI:10.3389/fmed.2021.670526.
25. Shima M. Current status and future prospects of activated recombinant coagulation factor VIIa, NovoSeven®, in the treatment of haemophilia and rare bleeding disorders. Ann Hematol. 2023; 30: 33–45. DOI: 10.1007/s00277-023-05287-2.
26. https://web.euhass.org/
27. Weyand A.C., Flood V.H. Von Willebrand Disease: Current Status of Diagnosis and Management. Hematol Oncol Clin North Am. 2021; 35(6): 1085–101. DOI: 10.1016/j.hoc.2021.07.004.
28. Girolami A., Tasinato V., Sambado L, et al. Venous thrombosis in von Willebrand disease as observed in one centre and as reported in the literature. Blood Coagul Fibrinolysis. 2015; 26(1): 54–8. DOI: 10.1097/MBC.0000000000000179.
29. Sanders Y.V., Eikenboom J., de Wee E.M., et al. Reduced prevalence of arterial thrombosis in von Willebrand disease. J Thromb Haemost. 2013; 11(5): 845–54. DOI: 10.1111/jth.12194.
30. Galstyan G.М., Vasiliev S.A., Galuzyak V.S., et al. Thromboembolism of the pulmonary artery in Willebrand’s disease. Terapevticheskiy archiv. 2005; 12: 33–9. (In Russian).
31. Ruiz-Saez A. Occurrence of thrombosis in rare bleeding disorders. Semin Thromb Hemost. 2013; 39(6): 684–92. DOI: 10.1055/s-0033-1353391.
32. Marty S., Barro C., Chatelain B., et al. The paradoxical association between inherited factor VII deficiency and venous thrombosis. Haemophilia. 2008; 14(3): 564–70. DOI: 10.1111/j.1365-2516.2007.01647.x.
33. Mariani G., Napolitano M., Dolce A., et al. Adverse events in treatment of inherited factor VII deficiency: final analysis of the STER. ASH Annual Meeting Abstracts 2012; 120.
34. Girolami A., Ruzzon E., Tezza F., et al. Arterial and venous thrombosis in rare congenital bleeding disorders: a critical review. Haemophilia. 2006; 12(4): 345–51. DOI: 10.1111/j.1365-2516.2006.01299.x.
35. Salomon O., Steinberg D.M., Koren-Morag N., et al. Reduced incidence of ischemic stroke in patients with severe factor XI deficiency. Blood. 2008; 111(8): 4113–7. DOI: 10.1182/blood-2007-10-120139.
36. Salomon O., Steinberg D.M., Zucker M., et al. Patients with severe factor XI deficiency have a reduced incidence of deep-vein thrombosis. Thromb Haemost. 2011; 105(2): 269–73. DOI: 10.1160/TH10-05-0307.
37. Lak M., Keihani M., Elahi F., Peyvandi F., et al. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol. 1999; 107(1): 204–6. DOI: 10.1046/j.1365-2141.1999.01681.x.
38. Simsek I., de Mazancourt P., Horellou M.H., et al. Afibrinogenemia resulting from homozygous nonsense mutation in A alpha chain gene associated with multiple thrombotic episodes. Blood Coagul Fibrinolysis. 2008; 19(3): 247–53. DOI:10.1097/MBC.0b013e3282f564fd.
39. de Moerloose P., Neerman-Arbez M. Congenital fibrinogen disorders. Semin Thromb Hemost. 2009; 35(4): 356–66. DOI: 10.1055/s-0029-1225758.
40. Haverkate F., Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost. 1995; 73(1): 151–61.
41. Hayes T. Dysfibrinogenemia and thrombosis. Arch Pathol Lab Med. 2002; 126(11): 1387–90.
42. Shen Y.M., Trang V., Sarode R., et al. Fibrinogen Dusart presenting as recurrent thromboses in the hepatic portal system. Blood Coagul Fibrinolysis. 2014; 25(4): 392–4. DOI: 10.1097/MBC.0000000000000045.
43. Casini A., Neerman-Arbez M., Ariens R.A., et al. Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. J Thromb Haemost. 2015; 13(6): 909–19. DOI: 10.1111/jth.12916.
44. Sugo T., Endo H., Matsuda M., et al. A classification of the fibrin network structures formed from the hereditary dysfibrinogens. J Thromb Haemost. 2006; 4(8): 1738–46. DOI: 10.1111/j.1538-7836.2006.02043.x.
45. Casini A., Blondon M., Lebreton A., et al. Natural history of patients with congenital dysfibrinogenemia. Blood. 2015; 125(3): 553–61. DOI: 10.1182/blood-2014-06-582866.
Review
For citations:
Florinskiy D.B., Zharkov P.A. Thrombosis in patients with inherited coagulation factor disorders. Russian journal of hematology and transfusiology. 2024;69(2):217-225. (In Russ.) https://doi.org/10.35754/0234-5730-2024-69-2-217-225
Views:
354
Email this article 
