CASE REPORT2B or not 2B? A diagnosis of von Willebrand disease a lifetime of 86 years in the makingChapman, Kenta; Prasad, Ritamb; Mohammed, Somac; Favaloro, Emmanuel J.c,d,eAuthor Information aNSW Health Pathology North, John Hunter Hospital, Newcastle bCalvary Mater Newcastle, Newcastle cNSW Health Pathology West, Institute of Clinical Pathology and Medical Research (ICPMR) dSydney Centres for Thrombosis and Haemostasis, Westmead Hospital, Sydney eSchool of Biomedical Sciences, Charles Sturt University, Wagga Wagga, New South Wales, Australia Correspondence to Kent Chapman, NSW Health Pathology North, John Hunter Hospital, Newcastle 2305, NSW, Australia E-mail: [email protected] Received 1 September, 2020 Revised 23 October, 2020 Accepted 11 November, 2020 Blood Coagulation & Fibrinolysis: April 2021 - Volume 32 - Issue 3 - p 229-233 doi: 10.1097/MBC.0000000000000994 Buy Metrics Abstract Type 2B von Willebrand disease (2B VWD) is a rare, autosomal dominant bleeding disorder characterized by a hyperadhesive form of von Willebrand factor (VWF). 2B VWD expresses phenotypically as an enhanced ristocetin-induced platelet aggregation and usually also a discordance in VWF activity versus protein level, with loss of high molecular weight VWF and (mild) thrombocytopenia. While all cases of 2B VWD supposedly share these characteristics, there is significant heterogeneity in laboratory findings within this group of patients, which are largely dictated by the underlying genetic defect. 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. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.