Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015

Figure 10 Von Willebrand disease 2E (left) and von Willebrand disease 2M (right). Left: Dominant VWD type 2E: multimerization defect with loss of large VWF multimers to W1120S mutation in the A3 domain. DDAVP induced transient correction of PFA-100 closure time and restricted increase of VWF parameters from around 0.20-0.40 U/mL to around 1.0 U/mL. In VWD type 2E, VWF multimeric pattern is characterized by a lack or relative decrease of large multimers and the absence of the outer sub-band of the normal triplet structure. Medium resolution gel according to Budde et al[12]. Right: VWD 2M: Poor response of VWF:RCo to DDAVP, normal VWF multimers before and after DDAVP and good responses of FVIII, VWF:Ag and VWF:CB followed by shortened half-life time indicating rapid clearance defect of the FVIII-VWF complex on top of loss of VWF:RCo function in VWD 2M[20]. Medium resolution gel according to Budde et al[12]. VWD: Von Willebrand disease; VWF: Von Willebrand factor; DDAVP: Desmopressin; PFA-EPI: Platelet function analyzer, epinephrin; PFA-ADP: Platelet function analyser adenosine di-phosphate; NP: Normal plasma; P: Patient.