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Related Experiment Videos

[von Willebrand disease].

D Meyer1, J Chassigneux

  • 1INSERM U. 143, hôpital de Bicêtre, le Kremlin-Bicêtre.

La Revue Du Praticien
|December 21, 1989
PubMed
Summary

Von Willebrand disease (vWD) is a common inherited bleeding disorder with varied symptoms and causes. Diagnosis involves specific tests, and treatment includes plasma concentrates or DDAVP.

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Area of Science:

  • Hematology
  • Genetics
  • Pathology

Context:

  • Von Willebrand disease (vWD) is a prevalent inherited bleeding disorder.
  • It exhibits significant heterogeneity in clinical presentation and underlying von Willebrand Factor (vWF) abnormalities (quantitative or qualitative).
  • Bleeding symptom severity varies considerably among individuals and over time within the same patient.

Purpose:

  • To describe the heterogeneous nature of Von Willebrand disease (vWD).
  • To explain the diagnostic challenges and methods for vWD.
  • To outline current therapeutic strategies for vWD.

Summary:

  • vWD's pathophysiology involves abnormalities in von Willebrand Factor (vWF), crucial for platelet adhesion and Factor VIII transport.
  • Typical vWD forms prolong bleeding time and APTT, but mild forms may show normal or near-normal results, often diagnosed post-procedure.
  • Diagnosis relies on specific vWF antigen, ristocetin-cofactor, and Factor VIII activity assays, with specialized methods needed for subtyping.
  • Therapeutic options include virus-inactivated plasma concentrates and desmopressin (DDAVP).

Impact:

  • Improved understanding of vWD heterogeneity aids in accurate diagnosis and management.
  • Highlights the importance of specific laboratory assays for diagnosing mild or atypical vWD cases.
  • Informs clinical practice regarding treatment choices for Von Willebrand disease.

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