Systematic analysis of bleeding phenotype in PT-VWD compared to type 2B VWD using an electronic bleeding questionnaire.

OBJECTIVE

To investigate the utility of an electronic version of the condensed molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (VWD) bleeding questionnaire (eBQ) in assessing the bleeding phenotype in platelet-type VWD (PT-VWD) and compare it to its closely similar disorder, type 2B VWD.

METHODS

Retrospective analysis of the clinical bleeding and laboratory phenotype of 13 patients with PT-VWD and 12 type 2B VWD.

RESULTS

Bleeding score (BS) was significantly lower in PT-VWD as compared to type 2B. Bleeding score correlated with platelet count and von Willebrand factor:Ristocetin cofactor activity in PT-VWD but not in type 2B with a significant reduction in platelet count in type 2B VWD compared to PT-VWD. The eBQ had sensitivity of 62% in PT-VWD and 92% in type 2B VWD.

CONCLUSION

Objective analysis of bleeding symptoms further the understanding of the phenotype of 2 closely similar bleeding disorders for better diagnosis and follow-up. Larger international prospective studies are warranted to evaluate the utility of the eBQ in PT-VWD and other rare bleeding disorders.