Platelet-type von Willebrand disease: results of a worldwide survey from the Canadian PT-VWD project.

摘要

The Canadian PT-VWD project (www.pt-vwd.org), which was initiated in 2007, is based on a molecular di agnosis approach to differentiate type 2B von Willebrand disease (VWD) from the phenotypically similar disorder platelet-type (PT) VWD. These two bleeding disorders share common clinical and laboratory features to an ex tent that the appropriate diagnosis of each becomes ex tremely challenging [1]. Several reports have recently dis cussed these challenges [2, 3]. However, the golden stan dard is the identification of the genetic mutation in either of the responsible genes, the VWF region coding for the A1 domain of the protein or within the platelet GP1BA region responsible for the glycoprotein 1balpha receptor that binds VWF, providing conclusive evidence for this diag nosis [4-6]. Laboratory phenotypic tests that are other wise useful in distinguishing the two disorders are not available in every laboratory, technically demanding, may be poorly applied or interpreted [7] but most impor tantly require a fresh blood sample that hinders transport to laboratories where testing is available.