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. 2022 Oct 5;6(7):e12807. doi: 10.1002/rth2.12807

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© 2022 The Authors. Research and Practice in Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis (ISTH).

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Flow chart of study subjects analyzed. Eighty‐two of 454 newly diagnosed von Willebrand disease (VWD) subjects with type 1 or low von Willebrand factor (VWF) had low local ristocetin cofactor (RCo), but normal (Nl) local and central VWF antigen (VWF:Ag), normal VWF glycoprotein‐IbM activity (GPIbM). Nineteen of the 82 subjects with low VWF:RCo had the common p.D1472H variant, which causes decreased binding of ristocetin to VWF A1 domain. ³ Forty‐one of non VWD subjects had low VWF:Rco/VWF:Ag ratio <0.6 and 29 (71%) also had the p.D1472H variant. Follow‐up testing (FU) was available on 37 subjects with and without p.D1472H.