Bernard-Soulier Syndrome

Excerpt

Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous Thrombolytic Dystrophy, is an extremely rare inherited blood clotting disorder characterized by giant platelet cells, thrombocytopenia, and prolonged bleeding time. In 1948, Jean-Bernard and Jean-Pierre Soulier described the first male patient who presented with repeated episodes of bleeding throughout his life and eventually died at the age of 28 years from an intracranial hemorrhage sustained after a bar fight. BSS involves a defect of the GPIb-IX-V complex, an essential platelet receptor complex that principally binds with the von Willebrand factor (vWF). However, it has multiple other functions in inducing thrombosis and hemostasis.