von Willebrand disease

most common inherited coagulation disorder
Etiology ↓ vWF or abnormality in vWF (normally stored in the alpha granules of platelets)
Epidemiology Inheritance?
Clinical presentation mucosal bleeding/bruising
Pathogenesis see below for function of vWF
Investigations: - normal platelet count
- prolonged bleeding time
- impaired ristocetin induced platelet aggregation
- reduced factor VIII activity
- INR normal
- APTT increased
- fibrinogen normal
Management: avoid antiplatelets
— responders should have DDAVP for prophylaxis and bleeding
— non-responders should have factor VIII concentrates or cryoprecipitate, can also use tranexamic acid 20mg/kg IV TDS

copied from LITFL

function of vWF

  • produced by endothelial cells
  • cofactor in platelet binding to matrix i.e. platelet aggregation

#haematology #endothelium