von Willebrand disease (VWD)
A congenital bleeding disorder resulting from a quantitative or qualitative deficiency of von Willebrand factor (VWF)
VWF is a plasma glycoprotein with essential platelet-dependent function in primary hemostasis and a carrier for factor VIII (FVIII) in the circulation
Acquired von Willebrand syndrome presents as a similar bleeding disorder
Male to female ratio: 1:1
Rodeghiero F et al. Blood 1987;69:454–459
Sadler JE et al. Thromb Haemost 2000;84:160–174
Werner EJ et al. J Pediatr 1993;123:893–898
Classification of Inherited VWD
Classification of Inherited VWD
| ||Percent of Cases ||Defect ||Inheritance |
|Type 1 (classic) ||70–80% ||Quantitative deficiency of VWF ||AD |
|Type 2 (variant) ||15–30% ||Qualitative defect of VWF ||AD or AR |
|Type 2A ||10–20% ||Decreased platelet-dependent VWF function, with lack of high-molecular-weight VWF multimers || |
| Type 2B ||5–10% ||Increased VWF affinity for platelet receptor (leading to decreased plasma levels of VWF). Patients may or may not lack high-molecular-weight VWF multimers. They may have thrombocytopenia from clearance of platelet aggregates formed by the heightened binding of VWF to platelets ||AD |
| Type 2M ||Uncommon ||Decreased platelet-dependent VWF function, with normal high-molecular-weight VWF multimers ||AD |
| Type 2N ||Uncommon ||Decreased affinity for FVIII. Lack of protection of FVIII by VWF leads to rapid clearance and low levels of FVIII, with normal or low borderline levels of VWF ||AR |
|Type 3 ||Rare (1–5/106) ||Complete (quantitative) deficiency of VWF ||AR |
VWF, von Willebrand factor; AD, autosomal dominant; AR, autosomal recessive
Sadler JE et al. J Thromb Haemost 2006;4:2103–2114
|Diagnostic Test ||Role/Comment |
|Abbreviation ||Name |
|aPTT ||Activated partial thromboplastin time ||Not a sensitive measure for VWD |
|VWF:Ag ||Plasma VWF antigen |
|VWF:RCo ||Plasma VWF activity (ristocetin cofactor activity and collagen binding activity ||ELISA; limited availability |
|FVIII✫ ||Factor VIII activity✫ |
|Bleeding time ||Bleeding time ||Not sensitive or specific measures for VWF function |
|PFA-100 ||Automated platelet function analyzer testing |
Perform tests below:
To determine the VWD subtype after the diagnosis is established
If there is a high index of suspicion for VWD, and some of the tests above are normal
|VWF multimers ||VWF multimers ||Gel electrophoresis for size distribution of plasma multimers |
|RIPA || |
Ristocetin-induced platelet aggregation
|Use to determine if a patient's VWF has an abnormally high affinity for platelet receptors; it is a necessary and specific for the diagnosis of type 2B VWD |
VWF, von Willebrand factor; VWD, von Willebrand disease
✫Note: FVIIIC is the coagulant component of FVIII, which, in normal people, circulates in the plasma complexed with von Willebrand factor
|Type ||VWF:Ag ||VWF:RCo ||RIPA ||Plasma Multimer Distribution...|
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