2B or not 2B? A diagnosis of von Willebrand disease a lifetime of 86 years in the making

We present a case of such a patient, expressing a clearly atypical VWF phenotype, but as still associated with enhanced ristocetin-induced platelet aggregation, thrombocytopenia, and a previously undescribed VWF variant (c.4130C>G; p.Ala1377Gly). The patient was misdiagnosed over his lifetime as idiotypic thrombocytopenia – a (mis)diagnosis that took a lifetime of 86 years to redress.
Source: Blood Coagulation and Fibrinolysis - Category: Hematology Tags: CASE REPORT Source Type: research