作者: Maha Othman , Paolo Gresele
DOI: 10.1111/JTH.14827
关键词:
摘要: 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 this may contribute to misdiagnosis thus inappropriate treatment these patients. This report provides expert opinion-based consensus recommendations standardized diagnostic approach PT-VWD. Tests essential in workup count size, ristocetin-induced agglutination mixing studies, sequencing GP1BA gene. Platelet transfusions factor-rich concentrates (if VWF low) most effective treatments. help avoid guide appropriate disease.