Recombinant Factor VIIa Prophylaxis in 2 Brothers with Bernard-Soulier Syndrome

BACKGROUND Bernard-Soulier Syndrome (BSS) is a rare autosomal recessive platelet disorder characterized by thrombocytopenia, giant platelets, prolonged bleeding time, and defective platelet adhesion due to abnormalities in the glycoprotein 1b-IX-V complex. Management of BSS is challenging due to the risk of severe bleeding and complications associated with repeated platelet transfusions. Recombinant activated factor VIIa (rFVIIa, trade name: NovoSeven) has emerged as a potential alternative therapy. CASE REPORT We report the cases of 2 brothers with BSS who experienced recurrent mucocutaneous bleeding. The older brother, aged 19, presented with persistent gingival bleeding that was unresponsive to tranexamic acid and required hospital-based interventions, including platelet transfusions. The younger brother, aged 18, was diagnosed in infancy and had a complex medical history including neurological symptoms. Both were initiated on prophylactic rFVIIa (4.5 mg IV and 4 mg IV, respectively) on a weekly basis. Following initiation of prophylaxis, both patients experienced a marked reduction in the frequency and severity of bleeding episodes. CONCLUSIONS Prophylactic administration of rFVIIa was effective in reducing bleeding episodes in 2 siblings with severe BSS. This case highlights the potential role of rFVIIa as a viable alternative to platelet transfusions in patients with recurrent bleeding. Further studies are needed to establish standardized protocols for prophylactic rFVIIa use in BSS.