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Coagulation Disorders: Platelet Disorders

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

Von Willebrand disease is characterized by a functional defect in von Willebrand factor (vWF) itself. This disease often clinically manifests with a concurrent deficiency of factor VIII. The platelet count is not affected by the disorder, but platelet function assays are abnormal. As far as genetics and inheritance, both men and women are affected equally. VWF is essential for platelet binding. Therefore, a defect in vWF causes impaired platelet adhesion and aggregation. The most commonly used treatment for von Willebrand disease is desmopressin (DDAVP). Crypoprecipitated anti-hemophilic factor (CRYO) can be used as a second-line therapy for patients with hemophilia A and von Willebrand disease, but only in those situations in which safer commercially prepared factor concentrates are not available.