Case report: Treatment of congenital factor V deficiency by liver transplantation

Introduction Congenital factor V (FV) deficiency is a rare coagulation disorder with an estimated incidence of 1:1,000,000 [ 1 ]. The clinical phenotype can range from absent or mild bleeding symptoms to severe, potentially life-threatening bleeding manifestations such as intracranial haemorrhages. Replacement therapy for patients with FV deficiency relies on the transfusion of fresh frozen plasma (FFP), since specific FV concentrates are unavailable and FV is not present in cryoprecipitate or prothrombin complex concentrates [ 1 ]. The limitations of FFP-based replacement therapy mainly result from the high volume required, which can cause transfusion-associated volume overload and prevents the administration of higher doses that could achieve high therapeutic factor V levels. The need for short treatment intervals (e.g. every 1-2 days) poses a high treatment burden when FFP-based therapy is used for long-term treatment or prophylaxis in patients with factor V deficiency. Method This case report describes a female patient with severe factor V (FV) deficiency (FV