Diagnosis and choice of haemostatic therapy during surgery in patients with combined coagulation factor V and VIII defi ciency

Introduction. Among the most common congenital coagulopathies are haemophilia and Von Willebrand disease. These illnesses are often mimicked by orphan hereditary coagulopathies, including combined coagulation factor V and VIII deficiency.

Aim — description of a clinical presentation, hampered diagnosis and choice of haemostatic therapy in a surgical patient with combined blood coagulation factor V and VIII deficiency.

Main findings. We describe a clinical case of congenital combined factor V and VIII deficiency and detail the aetiology, frequency, localisation and intensity of haemorrhages. Comorbidity and surgical indications are demonstrated to require an inter-specialty medical involvement.

1. Gupta S., Acharya S., Roberson C. et al. Potential of the Community Counts registry to characterize rare bleeding disorders. Haemophilia. 2019; 25(6): 1045– 50. DOI: 10.1111/hae.13847.

2. Shapiro А. The use of prophylaxis in the treatment of rare bleeding disorders. Thromb Res. 2019; 19: S0049-3848(19)30297-X. DOI: 10.1016/j.thromres.2019.07.014.

3. Spreafi co М., Peyvandi F. Combined FV and FVIII deficiency. Haemophilia. 2008; 14(6): 1201–8. DOI: 10.1111/j.1365-2516.2008.01845.x.

4. Zhang B., McGee B., Yamaoka J. Combined deficiency of factor V and factor VIII is due to mutation in either LMAN1 or MCFD2. Blood. 2006; 107 (5): 1903–7. DOI: 10.1182/blood-2005-09-3620.

5. Russo R, Esposito М, Iolascon А. Inherited hematological disorders due to defects in coat protein (COP) II complex. Am J Hematol. 2013; 88(2): 135–40. DOI: 10.1002/ajh.23292.

6. Zhang B, Cunningham М., Nichols W. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet. 2003; 34(2): 220–5. DOI: 10.1038/ng1153.

7. Zheng C., Liu H., Zhou J., et al. EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII. Blood. 2010; 115(5): 1081–7. DOI: 10.1182/blood-2009-09-241877.

8. Kashoub M., Al-Amri U., Saifudeen А. Combined factor V and VIII deficiency. Oman Med J. 2018; 33(3): 268. DOI: 10.5001/omj.2018.51.

9. Kesireddy S. Recurrent ruptured hemorrhagic corpus luteal cyst in a known case of combined deficiency of factor V and VIII. J Obstet Gynaecol India. 2018; 68(3): 229–231. DOI: 10.1007/s13224-017-1028-x.

10. Ogawa Y., Yanagisawa К., Uchiyama U. Congenital factor V and factor VIII deficiency discovered in an elderly patient with abnormal bleeding after trauma. Rinsho Ketsueki. 2018; 59(4): 383–8. DOI: 10.11406/rinketsu.59.383.

11. Fogarty H., Doyle M., Campbell R. Management of combined factor V and factor VIII deficiency in pregnancy. J Obstet Gynaecol. 2019; 39(2): 271–2. DOI: 10.1080/01443615.2018.1448766.

12. Spiliopoulos D., Kadir R. Congenital factor V and VIII deficiency in women: A systematic review of literature and report of two new cases. Blood Coagul Fibrinolysis. 2016; 27(3): 237–41. DOI: 10.1097/MBC.0000000000000407.

13. Peyvandi F., Tuddenham Е., Akhtari А., et al. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol. 1998; 100(4): 773–6.

14. Jain S., Acharya S.S. Management of rare coagulation disorders in 2018. Transfus Apher Sci. 2018; 57(6): 705–12. DOI: 10.1016/j.transci.2018.10.009.

15. Franchini M., Marano G., Pupella S. Rare congenital bleeding disorders. Ann Transl Med. 2018; 6(17): 331. DOI: 10.21037/atm.2018.08.34.

16. Howard C., Lipe B. Combined deficiency of factor V and factor VIII: Management during cardiothoracic surgery. Blood Coagul Fibrinolysis. 2017; 28(3): 267–8. DOI: 10.1097/MBC.0000000000000574.

17. Patel A., Liu H., Lager R., et al. Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1. Haemophilia. 2013; 19(4): 607–10. DOI: 10.1111/hae.12128.

18. Brown L., Tilzer L., Plapp F. Factor V and VIII deficiency treated with therapeutic plasma exchange prior to redo mitral valve replacement. J Clin Apher. 2017; 32(3): 196–9. DOI: 10.1002/jca.21478.

19. Ates I., Kaplan M., Tokgoz G. Combined factor V and VIII defi ciency in a young woman with abundant bleeding after tooth extraction. Blood Res. 2016; 51(1): 67–8. DOI: 10.5045/br.2016.51.1.67.

20. Mumford А., Ackroyd S., Alikhan R. Guideline for the diagnosis and management of the rare coagulation disorders: A United Kingdom Haemophilia Centre Doctors’ Organization Guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol. 2014; 167(3): 304–26. DOI: 10.1111/bjh.13058.

21. Bux J. Antibody-mediated (immune) transfusion-related acute lung injury. Vox Sang. 2011; 100(1): 122–8. DOI: 10.1111/j.1423-0410.2010.01392.x.

22. Manno M., Piccoli M., Frazzoni M., et al. Endoscopic and surgical management of Zenker’s diverticulum: New approaches. In: Conigliaro R., Frazzoni M. (Eds) Diagnosis and endoscopic management of digestive diseases. Springer. 2017: 179–87. DOI: 10.1007/978-3-319-42358-6_11.

23. Hussain Т., Maurer J., Lang S. Pathophysiology, diagnosis and treatment of Zenker’s diverticulum HNO. 2017; 65(2): 167–76. DOI: 10.1007/s00106-016-0302-z.

24. Huang J.N., Koerper M.A. Factor V deficiency: A concise review. Haemophilia. 2008; 14(6): 1164–9. DOI: 10.1111/j.1365-2516.2008.01785.x.