International opinion survey on nomenclature for platelet-type von Willebrand disease: communication from the SSC of the ISTH.

BACKGROUND

The nomenclature for platelet-type von Willebrand disease (PT-VWD) remains an open debate, with several proposed names in use in the literature for this rare inherited platelet disorder. It has been suggested that this name may lead to delays in diagnosis since the diagnostic pathway of patients often starts with von Willebrand factor assays, while the disorder is due to pathogenic gain-of-function (GOF) variants in the platelet GP1BA.

OBJECTIVES

This joint International Society on Thrombosis and Haemostasis (ISTH) Subcommittees' project aimed to engage with the international community on the disease's nomenclature.

METHODS

A working group, established under the auspices of 3 Subcommittees, explored issues around nomenclature and proposed possible names with input from a panel of 6 global experts. Two rounds of surveys were administered online via ISTH REDCap and My ISTH Community.

RESULTS

The 4 names, GPIBA GOF disorder, PT-VWD, glycoprotein Ibα GOF disorder, and PT-pseudo VWD, were selected in the first survey round by 40% to 60% of participants. The first 2 were the top choices and showed almost equal support (28% and 24%, respectively). A second focused round did not generate consensus for name change.

CONCLUSION

Based on the survey results, the decision was in support of retention of the more commonly used nomenclature (PT-VWD). More work is needed to ensure this name is adopted universally and in all current online databases to achieve consistency.