Von Willebrand Disease

Key Features

• Easy bruising and epistaxis from early childhood

• Menorrhagia

• Prolonged platelet function analyzer (PFA)-100 (or bleeding time), normal platelet count, absence of acquired platelet dysfunction

• Reduced amount or abnormal activity of von Willebrand factor (vWF)

Clinical Findings

• A history of increased bruising and excessive epistaxis is often present

• Prolonged bleeding also occurs with trauma or at surgery

• Can develop in association with hypothyroidism, Wilms tumor, cardiac disease, kidney disease, or systemic lupus erythematosus, and in individuals receiving valproic acid

Diagnosis

• Prothrombin time is normal

• Activated partial thromboplastin time is sometimes prolonged

• Prolongation of the PFA-100 or bleeding time is usually present

Treatment

• Desmopressin

  • May be administered intravenously or subcutaneously

  • Typically elicits a three- to fivefold rise in plasma vWF

  • A high-concentration desmopressin nasal spray (150 μg/spray), different from the preparation used for enuresis, may be used

  • May cause fluid shifts, hyponatremia, and seizures

• If further therapy is indicated, vWF-replacement therapy (eg, plasma-derived concentrate) is recommended

• Antifibrinolytic agents (eg, ε-aminocaproic acid) may be useful for control of mucosal bleeding