Autosomal dominant von Willebrand disease type 2M.
von Willebrand disease (VWD) type 2M is a distinct entity and clearly differs from type 1. The genotype-phenotype correlation for cases with ristocetin cofactor activity (RCo)/antigen (Ag) ratios <0.60 is clear, whereas the von Willebrand factor (VWF):collagen binding (CB)/VWF:Ag ratio is normal in VWD 2M. Typical laboratory features of VWD type 2 M are decreased ristocetin-induced platelet aggregation in the presence of a normal or near normal VWF multimeric pattern on a low-resolution agarose gel, a poor response to desmopressin (DDAVP) of VWF:RCo, and a good response of both VWF:CB and VWF:Ag to DDAVP. The phenotypic definition of VWD type 2M may need to be more stringent and should be the subject of an international standardization initiative.
Hermans
Cedric
C
Hemostasis and Thrombosis Center, Hemophilia Clinic, St. Luc University Hospital, Avenue Hippocrate 10, Brussels, Belgium. cedric.hermans@uclouvain.be
Batlle
Javier
J
D001760:Bleeding Time; D001797:Blood Protein Electrophoresis; D003094:Collagen / Q000032:analysis; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D008958:Models, Molecular; D008970:Molecular Weight; D020125:Mutation, Missense; D010641:Phenotype; D010974:Platelet Aggregation / Q000187:drug effects; D017354:Point Mutation; D020836:Protein Structure, Quaternary; D017434:Protein Structure, Tertiary; D009626:Terminology as Topic; D014842:von Willebrand Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis / Q000737:chemistry / Q000235:genetics*
D014841:von Willebrand Factor; D003094:Collagen