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

Figure 9 Restricted response of von Willebrand factor parameters to desmopressin. Pronounced dominant VWD type 1 secretion defect (high FVIII:C/VWF:Ag ratio) with restricted response of VWF parameters to DDAVP as compared to completely normal responses of FVIII (high FVIII:C/VWF:Ag ratio) is indicative for VWD type 1 secretion defect (Left). Diagnostic differentiation of pronounced 1 VWD 1 secretion defect with normal VWF multimers (VWF MM according to Budde) and restricted decreased response to DDAVP of all VWF parameters in two members of one family (proband and her brother) vs pronounced case of dominant VWD 2M (Right) with normal VWF multimers before and after DDAVP[18], a poor response of VWF:RCo to DDAVP and fairly good responses to DDAVP of FVIII:C, VWF:Ag and VWF:CB followed by shortened half life times of FVIII:C, VWF:Ag and VWF:CB indicative for rapid clearance defect. Dominant VWD type 2M (Michiels) is featured by loss of function mutation in the A1 domain, normal multimers, decreased to zero RIPA, low VWF:RCo activity, a secretion defect and rapid clearance[18]. VWD: Von Willebrand disease; VWF: Von Willebrand factor; DDAVP: Desmopressin; NP: Normal plasma; P: Patient.