Von Willebrand’s disease

Von Willebrand’s disease
Updated: 07/25/2023
© Jun Wang, MD, PhD

General features
  • Most common hereditary bleeding disorder
  • No gender preference, but females tend to be symptomatic with the same von Willebrand Factor (vWF) level
  • Due to deficiency or dysfunction of vWF, which has two functions:
Mediating platelet adherence to subendothelium
Carrier molecule for Factor VIII, which protects it from premature destruction
  • Bleeding exacerbated by aspirin
Phenotypes
  • Type 1, partial quantitative deficiency of vWF but normal function
Most common, autosomal dominant  
  • Type 2, qualitative defects
4 subtypes*: A, B, M, N
Autosomal dominant (B), recessive (N), or either (A, M)
Most common subtype: 2A
  • Type 3, severe or complete vWF deficiency
Very rare
Autosomal recessive
Clinical presentations
Mild/moderate bleeding
  • Type 2
2A: Moderate to severe bleeding
2B: Moderate to severe bleeding
2M: Moderate to severe bleeding
2N: Joint, soft tissue, urinary bleeding, similar to hemophilia A
  • Type 3
Severe bleeding
Joint and soft tissue bleeding
Key pathogenesis
  • Qualitative or quantitative defects of vWF
Key Laboratory findings
  • Normal or prolonged aPTT
  • Normal PT
  • Others

vWFA: von Willebrand factor activity
RIPA: Ristocetin-induced platelet aggregation

Treatment
  • Desmopressin (DDAVP), NOT for type 3
  • Recombinant von Willebrand factor (rVWF)
  • von Willebrand factor/factor VIII (vWF/FVIII) concentrates
  • Antifibrinolytic drugs
  • Platelet transfusion

* A subtype, 2C, was proposed in 2009


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