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

Abstract

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.