Guidance on the diagnosis and management of Platelet- type von Willebrand Disease: a communication from the platelet physiology subcommittee of the ISTH.

Authors: Othman, M. and Gresele, P.

Publication: J Thromb Haemost; April 2020

Affiliations: Department of Biomedical and Molecular Sciences, School of Medicine, Queen’s University, Kingston, Canada; School of Baccalaureate Nursing, St. Lawrence College, Kingston, Canada; Paolo Gresele, Department of Medicine, Division of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.

Abstract: Platelet- type von Willebrand Disease (PT-VWD) is a rare autosomal dominant platelet bleeding disorder, with fifty-five 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 (RIPA) with mixing studies and sequencing of platelet GP1BA gene. Platelet transfusions and VWF-rich concentrates are the most effective treatments. This consensus may help to avoid misdiagnosis and guide appropriate management of patients with this disease.