Context: Factor V deficiency is a rare abnormality of coagulation as para-haemopilia, originally described by Owren in 1947, it is transmitted in an autosomal and recessive fashion. Its incidence is estimated at 1/10,000 in France. Clinical expressive is usually asymptomatic in the homozygous state. The diagnosis is based on a low prothrombin rate and normal TCK associated with a decrease in the factor of PFC in our context. Results: This was a 16-year-old male patient of normal build, born to consanguineous parents. He had sustained a head injury with the formation of an occipito-parietal hematoma. On admission, he was conscious, with moderate pallor of the skin and mucous membranes. The Complete Blood Count (CBC) showed normocytic anemia, a normal white blood cell and platelet count, PT at 59.5% and Activated Partial Thromboplastin Time (aPTT) Normal. Factor assays using a chronometric method revealed a factor V deficiency with normal factor VII. The patient received six transfusions of Fresh Frozen Plasma (FFP). The outcome was favorable, with progressive resorption and disappearance of the hematoma within a few days. Conclusion: Factor V deficiency is a very rare blood clotting disorder. It affects men and women equally and can, in some cases, cause significant bleeding.
References
[1]
Owren, P.A. (1947) The Coagulation of Blood: Investigation on a New Clotting Factor. Acta Medica Scandinavica, 128, 11-41.
[2]
Andrea Seeler, R. (1972) Parahemophilia: Factor V Deficiency. MedicalClinicsofNorthAmerica, 56, 119-125. https://doi.org/10.1016/s0025-7125(16)32427-0
[3]
Boujrad, S., El Hasbaoui, B., Echahdi, H., Malih, M. and Agadr, A. (2017) Déficit congénital en facteur V: À propos d’un cas. Pan African Medical Journal, 27, Article 182. https://doi.org/10.11604/pamj.2017.27.182.12285
[4]
Asselta, R. and Peyvandi, F. (2009) Factor V Deficiency. SeminarsinThrombosisandHemostasis, 35, 382-389. https://doi.org/10.1055/s-0029-1225760
[5]
Lak, M., Sharifian, R., Peyvandi, F. and Mannucci, P.M. (1998) Symptoms of Inherited Factor V Deficiency in 35 Iranian Patients. BritishJournalofHaematology, 103, 1067-1069. https://doi.org/10.1046/j.1365-2141.1998.01077.x
[6]
Vigué, B., Tremey, B. and Tazarourte, K. (2007) Hémorragies sous antivitamines K: Les freins à la prescription du PPSB, mythes et réalités. Journal Européen des Urgences, 20, 1S1-1S9. https://doi.org/10.1016/s0993-9857(07)80002-1
[7]
Spreafico, M. and Peyvandi, F. (2008) Combined FV and FVIII Deficiency. Haemophilia, 14, 1201-1208. https://doi.org/10.1111/j.1365-2516.2008.01845.x
[8]
Vinciguera, C., Durant, B. and Rugeri, L. (2016) Combined Deficiency in Coagulation Factors V and VIII: Or When Genetics Explains Combined Deficiencies of Coagulation Factors. Immunoassay and Specialized Biology, 22, 1-72.
[9]
Torun, D., Yılmaz, E., Atay, A., Kürekçi, E. and Akar, N. (2010) Two New Mutations at ERGIC-53 Gene in a Turkish Family. ClinicalandAppliedThrombosis/Hemostasis, 17, 248-250. https://doi.org/10.1177/1076029609355153
[10]
Mansouritorgabeh, H., Rezaieyazdi, Z., Pourfathollah, A.A., Rezai, J. and Esamaili, H. (2004) Haemorrhagic Symptoms in Patients with Combined Factors V and VIII Deficiency in North-Eastern Iran. Haemophilia, 10, 271-275. https://doi.org/10.1111/j.1365-2516.2004.00890.x
[11]
Samama, M.M., Elalamy, I. and Conard, J. (2001) Abridged Hemorrhages and Thromboses: From Diagnosis to Treatment. Hematology, 7, 32-37.
[12]
Montefusco, M.C., Duga, S., Asselta, R., Malcovati, M., Peyvandi, F., Santagostino, E., et al. (2003) Clinical and Molecular Characterization of 6 Patients Affected by Severe Deficiency of Coagulation Factor V: Broadening of the Mutational Spectrum of Factor V Gene and in Vitro Analysis of the Newly Identified Missense Mutations. Blood, 102, 3210-3216. https://doi.org/10.1182/blood-2003-03-0922
[13]
Bounes, V., Lagarde, F., Battefort, F., Ruols, E., Frontin, P. and Ducassé, J. (2008) Impact de l’échographie préhospitalière lors de son utilisation en routine. JournalEuropéendesUrgences, 21, A24. https://doi.org/10.1016/j.jeur.2008.03.170
[14]
Chemaou, A., Ayachi, M., Benjelloun, O. and Zineddine, A. (2013) Ménorragies par déficit congénital en facteur V chez une adolescente. ArchivesdePédiatrie, 20, 33-36. https://doi.org/10.1016/j.arcped.2012.10.009
[15]
El Koraïchi, A., Mokhtari, M., Ghannam, M., Mekaoui, N., El Haddoury, M. and Ech-Cherif El Kettani, S. (2011) Déficit en facteur V et circoncision: Gestion périopératoire. À propos d’un cas clinique. Annales Françaises d’Anesthésie et de Réanimation, 30, 377-378. https://doi.org/10.1016/j.annfar.2011.01.007
[16]
Kalafatis, M. (2005) Coagulation Factor V: A Plethora of Anticoagulant Molecules. CurrentOpinioninHematology, 12, 141-148. https://doi.org/10.1097/01.moh.0000155016.30296.90
[17]
Aniko, M., Eniko, A., Edina, M., Terez, S. and Eva, A. (2002) Severe Congenital Factor V Deficiency: Case Report. OrvosiHetilap, 143, 87-89.
[18]
Consulte, E.M.C. (2009) L’hémostase en pédiatrie et ses principales pathologies. OptionBio, 20, 16-18.
[19]
Thalji, N. and Camire, R. (2013) Parahemophilia: New Insights into Factor V Deficiency. SeminarsinThrombosisandHemostasis, 39, 607-612. https://doi.org/10.1055/s-0033-1349224
[20]
Sanklecha, M.U., Sundaresan, S. and Charde, V. (2013) Factor V Deficiency: A Subtle Presentation. TheIndianJournalofPediatrics, 81, 283-284. https://doi.org/10.1007/s12098-013-1180-y
[21]
Benjelloun, O. (2010) P442—Déficit congénital en facteur V dans une fratrie. ArchivesdePédiatrie, 17, 160. https://doi.org/10.1016/s0929-693x(10)70835-6
[22]
Song, J.W., Um, M.R., Ahn, H.S. and Hong, C.Y. (1987) A Case of Congenital Factor V Deficiency. JournalofKoreanMedicalScience, 2, 179-182. https://doi.org/10.3346/jkms.1987.2.3.179
[23]
Fratantoni, J.C., Hilgartner, M. and Nachman, R.L. (1972) Nature of the Defect in Congenital Factor V Deficiency: Study in a Patient with an Acquired Circulating Anticoagulant. Blood, 39, 751-758. https://doi.org/10.1182/blood.v39.6.751.751