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Updated: Jul 9 2020

Von Willebrand Disease

  • .Snapshot
    • A 25-year-old woman presents to the emergency room with prolonged bleeding after a dental procedure early that day. She has gone through several gauze packing with no success. Her past medical history includes heavy and prolonged menses. As a child, she had several episodes of unexplained nosebleeds. Labs show normal PT, PTT, and platelet count.
  • Introduction
    • Inherited mixed platelet and coagulation disorder from deficiency in von Willebrand factor (vWF)
    • Genetics
      • autosomal dominant
    • Epidemiology
      • most common inherited bleeding disorder
      • more likely in Caucasians
    • Pathogenesis
      • affects coagulation - vWF carries and protects factor VIII
        • produced by endothelial cells and megakaryocytes
        • intrinsic pathway coagulation defect
      • affects platelets – vWF is important in platelet adherence to endothelial lining
        • platelet aggregation is normal (mediated by fibrinogen)
  • Presentation
    • Symptoms
      • mucocutaneous bleeding
        • epistaxis
        • gingival bleeding
        • petechiae
        • easy bruising
        • menorrhagia
      • increased bleeding after aspirin use
  • Evaluation
    • Normal or ↑ PTT (like hemophilia)
    • Normal PT
    • ↑ bleeding time (unlike hemophilia)
    • CBC
      • normal platelet count and appearance
      • may have anemia
    • Diagnosis by ristocetin cofactor assay
      • tests ability of platelets to bind to ristocetin (artificial endothelial surface)
      • ↓ platelet agglutination
  • Differential Diagnosis
    • Bernard-Soulier syndrome
    • Glanzmann thrombasthenia
    • Hemophilia
  • Treatment
    • DDAVP (desmopressin acetate)
      • releases vWF stored in endothelial cells
    • Factor VIII replacement if refractory to DDAVP
      • contains vWF
  • Prognosis, Prevention, and Complications
    • Prognosis
      • most are mild or moderate in severity
    • Prevention
      • avoid aspirin
    • Complications
      • excessive bleeding
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