Combined factor V and factor VIII deficiency in a girl with haemarthrosis

Abstract

Factor VIII and factor V are clotting proteins acting as cofactors respectively for factor IX in the intrinsic pathway and factor X in the common pathway of the coagulation cascade. Haemophilia A due to factor VIII deficiency is transmitted as an X-linked disease occurring in 1 in 10,000 males. Factor V deficiency alone is rare and is autosomal recessive with an estimated incidence of 1 in a million persons. Combined factor V and factor VIII deficiency is also rare but is the commonest of the inherited deficiencies of more than one coagulation factors. We describe a 5 year old Chinese girl who presented with haemarthrosis and diagnosed to have combined factor V and VIII deficiencies. She was found to have prolonged activated partial thromboplastin time and prolonged prothrombin time. Factor assays showed low factor V level of 0.14 u/ml and low factor VIII level of 0.20 u/ml. Her symptoms subsided with infusion of fresh frozen plasma. Over a 2 year follow up period, she has been free from further major bleeding.