Gadisseur A, van der Planken M, Schroyens W, Berneman Z, Michiels JJ
Dominant von Willebrand Disease Type 2M and 2U Are Variable Expressions of One Distinct Disease Entity Caused by Loss-of-Function Mutations in the A1 Domain of the von Willebrand Factor Gene. [JOURNAL ARTICLE]
Acta Haematol 2009; 121(2-3):145-153.
A complete set of laboratory investigations, including bleeding time, PFA-100 closure time, factor VIII coagulant activity (FVIII:C), von Willebrand factor (VWF) ristocetin cofactor activity (RCo), collagen binding (CB) and antigen concentration (Ag), ristocetin-induced platelet aggregation (RIPA) and multimeric analysis of VWF in low and medium SDS-agarose resolution gels, is warranted to diagnose and classify all variants of von Willebrand disease (VWD). VWD type 2M and 2U are typically characterized by decreased RIPA and a poor response of VWF:RCo to desmopressin (DDAVP), but normal VWF:CB and good responses of VWF:CB, VWF:Ag and FVIII:C to DDAVP. VWF multimeric analysis in patients with VWD 2M and 2U show relative decreases in large VWF multimers with less resolved triplet structure of each of the multimeric bands in low-, medium- or high-resolution gels. VWD type 2M or 2U are caused by a loss-of-function mutation in the A1 domain. The laboratory manifestations and molecular defects in the A1 domain causing VWD type 2M and 2U are clearly distinct from all variants of type 1 VWD and also from all other variants [VWD type 2A, 2B, 2E (IIE) and 2C (IIC)].
More from this journal |
