100 Years of von Willebrand Disease: The Journey to Contemporary Diagnostic Pathways-An Illustrative Case-Based Narrative Review

Authors: Favaloro, EJ; Pasalic, L; Curnow, J

Affiliations: Department of Haematology, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, New South Wales, Australia. Sydney Centres for Thrombosis and Haemostasis, Research and Education Network (REN), Westmead Hospital, Westmead, New South Wales, Australia. Faculty of Science and Health, Charles Sturt University, Wagga Wagga, New South Wales, Australia. School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Westmead Hospital, Westmead, New South Wales, Australia. Department of Haematology, Sydney Centres for Thrombosis and Haemostasis. Sydney Centres for Thrombosis and Haemostasis, Research and Education Network (REN), Westmead Hospital, Westmead, New South Wales, Australia. Westmead Clinical School, University of Sydney, Westmead Hospital, Westmead, New South Wales, Australia. Westmead Clinical School, University of Sydney, Westmead Hospital, Westmead, New South Wales, Australia. Clinical Haematology, Sydney Centres for Thrombosis and Haemostasis, Westmead Hospital, Westmead, New South Wales, Australia.

Publication: Seminars in Thrombosis and Hemostasis; 2026

ABSTRACT: von Willebrand disease (VWD) is the most commonly inherited bleeding disorder, with a prevalence surpassing hemophilia A. Unfortunately, VWD may be variously underdiagnosed, overdiagnosed, or misdiagnosed, depending on the expertise of the managing clinician and testing laboratories. Diagnostic challenges are due to the heterogeneity of VWD and the complexities surrounding laboratory assessment, including reactive influences on VWF levels. At least six types of VWD can be identified, with these classified according to the functional defect and/or level of deficiency in the plasma protein von Willebrand factor (VWF). The VWF protein has several functions, most of which can be assessed by laboratory testing; however, this increases the diagnostic complexity, and clinicians/laboratory staff may not understand the differences in these tests and what they assess. Thus, a battery of laboratory tests is required to enable an effective diagnosis or exclusion of VWD, as well as its type classification. VWD was first identified in a young female patient by Erik von Willebrand in 1924, with a seminal publication on his findings appearing in the literature in 1926. This year, 2026, represents 100 years of VWD. We review some of the history of VWD, as well as outlining the contemporary diagnostic pathway for VWD, assisted by several illustrative case examples.