Guidance on the diagnosis and management of platelet‐type von Willebrand disease: A communication from the Platelet Physiology Subcommittee of the ISTH. (4th August 2020)

• Record Type: Journal Article
• Authors: Othman, Maha; Gresele, Paolo
• Is Part Of: Journal of thrombosis and haemostasis. Volume 18:Number 8(2020)
• Page Start: 1855
• Page End: 1858
• Publication Date: 2020-08-04
• Subjects: GPIb alpha -- macrothrombocytopenia -- platelet dysfunction -- PT-VWD -- thrombocytopenia; Thrombosis -- Periodicals; Hemostasis -- Periodicals; Blood coagulation disorders -- Periodicals; 616.1
• DOI: 10.1111/jth.14827
• Languages: English
• ISSNs: 1538-7933

Abstract

Abstract: Platelet‐type von Willebrand disease (PT‐VWD) is a rare autosomal dominant platelet bleeding disorder, with 55 patients reported worldwide so far, probably frequently misdiagnosed. Currently, there are no clear guidelines for the diagnosis and management of PT‐VWD and this may contribute to misdiagnosis and thus to inappropriate treatment of these patients. This report provides expert opinion‐based consensus recommendations for the standardized diagnostic and management approach to PT‐VWD. Tests essential in the diagnostic workup are platelet count and size, ristocetin‐induced platelet agglutination with mixing studies, and sequencing of platelet GP1BA gene . Platelet transfusions and von Willebrand factor‐rich concentrates (if VWF is low) are the most effective treatments. This consensus may help to avoid misdiagnosis and guide appropriate management of patients with this disease.