Combined factor V and factor VIII deficiency: A rare case report and literature review


Combined factor V and factor VIII deficiency: A rare case report and literature review


Khalid E. Ahmed1, Amna Gameil2, Dina S. Soliman3, Aliaa Amer3, Mohamed A. Yassin2, Shehab Mohamed2

1Department of internal medicine, Hamad Medical Corporation, Doha, Qatar; 2Hematology department, NCCCR, Hamad Medical Corporation, Doha, Qatar; 3Department of laboratory medicine and pathology, NCCCR, Hamad Medical Corporation.  Doha, Qatar.


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Background: Combined factor V and factor VIII deficiency (F5F8D) is a rare autosomal recessive inherited coagulopathy. It has a higher prevalence in the Mediterranean region (1:100,000) compare to its prevalence in the general population which is estimated to be (1:1000,000).

Case report: We report a 59 years old Lebanese lady who was referred from the general surgery clinic with an asymptomatic prolongation of prothrombin time (PT), international normalized ratio (INR) and activated partial thromboplastin time (aPTT) detected during preoperative work up for an elective umbilical hernia repair. The patient had history of bleeding following dental procedures since childhood as well as easy bruising with minimal trauma. Physical examination was unremarkable. haematological investigations were normal apart from the prolonged PT, INR and aPTT which were corrected following mixing studies.  Factor assay revealed factor V level of 5.5% and factor VIII level of 11.9% with other factors within normal ranges confirming the diagnosis of combined F5F8D.

Conclusion: Combined factor V and factor VIII deficiency should be suspected in patients with prolonged PT, INR and aPTT especially if they are of Mediterranean, Middle east or  Arabic origin with a history of consanguineous marriages. Treatment is generally not indicated unless the patient has recurrent serious bleeding manifestations.


Keywords: Factor V, Factor VIII, combined, Lebanese, Mediterranean


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How to cite this article:

Khalid E. Ahmed, Amna Gameil, Dina S. Soliman, Aliaa Amer, Mohamed A. Yassin, Shehab Mohamed. Combined factor V and factor VIII deficiency: A rare case report and literature review. International Journal of Case Reports, 2020 4:118. DOI: 10.28933/ijcr-2020-02-1512


References:

1. Oeri J, Matter M, Isenschmid H, Hauser F, Koller F. Angeborener mangel an faktor V (parahaemophilie) verbunden mit echter haemophilie A bein zwei brudern. Med Probl Paediatr. 1954;1:575-88.
2. Farah RA, De Moerloose P, Bouchardy I, Morris MA, Barakat W, Sayad AE et al. Combined factor V-factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient. THROMBOSIS AND HAEMOSTASIS-STUTTGART-.2006;95(5):893.
3. Zheng C, Zhang B, editors. Combined deficiency of coagulation factors V and VIII: an update. Seminars in thrombosis and hemostasis; 2013: NIH Public Access.
4. Abolghasemi H, Shahverdi E. Umbilical bleeding: a presenting feature for congenital afibrinogenemia. Blood Coagulation & Fibrinolysis. 2015;26(7):834-5.
5. Seligsohn U, Ziyelin A. Zwang E, Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. N Engl J Med 1982;307:1191-5.
6. Zhang B. Recent developments in the understanding of the combined deficiency of FV and FVIII. British journal of haematology. 2009;145(1):15-23.
7. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, et al. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nature genetics. 2003;34(2):220-5.
8. Nichols WC, Seligsohn U, Zivelin A, et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998;93:61-70.
9. Spreafico M, Peyvandi F. Combined FV and FVIII deficiency. Haemophilia 2008;14:1201-18
10. Spreafico M, Peyvandi F. Combined FV and FVIII deficiency. Semin Throm Hemost 2009;35:390-9