Clinical, laboratory and therapeutic aspects of platelet-type von Willebrand disease.
Platelet-type von Willebrand disease (PT-VWD), or pseudo-VWD, is a rare inherited platelet disorder characterized by an increased affinity of the platelet membrane glycoprotein Ibalpha receptor for normal von Willebrand factor leading to characteristic platelet hyperaggregability. As PT-VWD shares most of the clinical and laboratory features of subtype 2B VWD, the differential diagnosis between these two inherited bleeding disorders requires either platelet-mixing or molecular genetic studies. In this review, the main clinical, laboratory and therapeutic characteristics of PT-VWD are concisely reported.
Franchini
M
M
Servizio di Immunoematologia e Trasfusione, Centro Emofilia, Azienda Ospedaliera di Verona, Verona, Italy. mfranchini@univr.it
Montagnana
M
M
Lippi
G
G
D003937:Diagnosis, Differential; D006801:Humans; D009154:Mutation; D010974:Platelet Aggregation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D014842:von Willebrand Diseases / Q000097:blood / Q000145:classification / Q000175:diagnosis* / Q000628:therapy*; D014841:von Willebrand Factor / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
D019038:Platelet Glycoprotein GPIb-IX Complex; D014841:von Willebrand Factor