Clinical benefit of recombinant factor VIIa in management of bleeds and surgery in two brothers suffering from the Bernard–Soulier syndrome

Abstract

Bernard-Soulier syndrome (BSS) is a rare congenital bleeding disorder characterized by thrombocytopenia and giant platelets that display impaired or absent platelet agglutination with ristocetin. The disease is caused by mutations in genes controlling the expression of the platelet glycoprotein Ib-IX complex. The most severely affected patients suffer from profound muco-cutaneous bleeding tendency. Patients suffering from BSS may require platelet transfusion in prevention and management of severe bleeding. However, recent publications have suggested that recombinant factor VIIa (rFVIIa) infusion may support haemostasis in BSS. The present report describes two brothers who received treatment with rFVIIa together with tranexamic acid on a total of six occasions in management of haemostasis in minor surgery and for a serious spontaneous upper gastrointestinal tract bleed. Although platelet transfusion was omitted, haemostasis was regarded excellent in all of these treatment episodes.