Bernard-Soulier Syndrome is a genetic platelet disorder characterized by abnormal platelet function tests, unusually large platelets, and a moderate decrease in platelet count. Clinically, patients present with mucocutaneous bleeding of varying severity, as well as having gingival bleeds, epistaxis, purpura, and gastrointestinal hemorrhaging.
Treatment can range from the administration of iron supplements to red cell replacement therapy if the episodic bleeding is severe enough to warrant it.
