In this panel discussion moderated by Dr. Kevin Barnum, listen to three leading experts in the field of von Willebrand disease (vWD) discuss the practical aspects of diagnosis and patient care, from navigating genetic testing and low VWF to managing pregnancy, aging, and evolving treatment decisions.
Meet the Moderator and Panelists:
Kevin Barnum, MD, PhD is an attending physician at Beth Israel Deaconess Medical Center and an Instructor in Medicine at Harvard Medical School. He completed medical and graduate school at the Icahn School of Medicine at Mount Sinai and then completed residency at Yale-New Haven Hospital, where he also served as Chief Resident. He loves all things hematology, in particular lymphoid malignancy and immune disorders of the hematologic system.
Dr. David Lillicrap is a Professor in the Department of Pathology and Molecular Medicine at Queen’s University, Kingston, Canada. He was the recipient for 21 years of a Senior Canada Research Chair in Molecular Hemostasis, and in 2013 was admitted to the Fellowship of the Royal Society of Canada. He is a past Chairman of the International Society on Thrombosis and Haemostasis’ (ISTH) Scientific and Standardization Committee, a prior member of the Council of ISTH, and in 2024, he was the recipient of the Society’s Roberts Award. He previously served for 7 years as an Associate Editor for Blood and recently completed a 5-year appointment as Co-Editor-in-Chief of the Journal of Thrombosis and Haemostasis. For the past 25 yrs he has directed the Canadian National Reference Genotyping Laboratory for Inherited Bleeding Disorders.
Dr. Karin van Galen has worked as a Consultant Hematologist at the Van Creveldkliniek, UMC Utrecht since 2011, specializing in benign hematologic conditions with a focus on coagulation disorders. She completed her PhD on joint bleeding in Von Willebrand disease and is involved in (inter)national research on inherited bleeding disorders. Her current work includes postdoctoral research on pregnancy and heavy menstrual bleeding in these patients. Dr. van Galen (co)supervises PhD students and is a leading advocate for women and girls with inherited bleeding disorders, both nationally and internationally.
Dr. Michelle Lavin is a Consultant Haematologist in the National Coagulation Centre, St. James’s Hospital, Dublin, Ireland and researcher in the Irish Centre for Vascular Biology, RCSI, Dublin. Her doctoral work focused on von Willebrand Disease (VWD) and phenotypic variability, particularly in the setting of low von Willebrand Factor (VWF) levels. Her current research programme centres on improving recognition and diagnosis of heavy menstrual bleeding to enhance care for Women and Girls+ with Bleeding Disorders (WGBD+). Dr. Lavin serves as the Chair of the World Federation of Hemophilia (WFH) VWD Committee, the European Association for Haemophilia and Allied Disorders (EAHAD) WGBD Working Group and as an Associate Member of the FIGO (International Federation of Gynecology and Obstetrics) Menstrual Disorders and Related Health Impacts Committee.
(Video Lecture Summary)
Beyond the Guidelines: Expert Perspectives on von Willebrand Disease
This roundtable discussion brings together Drs. David Lillicrap, Michelle Lavin, and Karin van Galen for a practical, experience-based conversation about the diagnosis and management of von Willebrand disease (vWD). Moderated by Dr. Kevin Barnum, the discussion moves beyond guideline recommendations to examine some of the most common clinical dilemmas in vWD care: the appropriate use of genetic testing, management of patients with low von Willebrand factor (VWF), prevention of pregnancy-related bleeding, and caring for patients whose VWF levels rise with age. Throughout the discussion, the panel emphasizes a central principle: vWD is a clinical diagnosis that depends on the integration of laboratory findings with the patient’s bleeding phenotype.
Genetic testing complements but does not replace clinical diagnosis
The discussion begins with the expanding role of genetic testing in vWD. Although molecular diagnostics have become increasingly accessible, the panelists caution against viewing genetic testing as a universal diagnostic solution. The VWF gene is technically complex, many variants remain difficult to interpret, and identifying a sequence variant does not necessarily establish clinically significant disease.
Instead, the experts describe genetic testing as a targeted tool that is most valuable in selected situations, including confirming type 2 variants, distinguishing type 2B vWD from platelet-type von Willebrand disease, differentiating type 2N disease from mild hemophilia A, supporting prenatal counseling in severe disease, and occasionally helping distinguish inherited from acquired von Willebrand syndrome. For patients with mild quantitative reductions in VWF, however, the panel advises caution. They repeatedly emphasize that vWD remains a phenotypic diagnosis. Laboratory findings and genetic results should always be interpreted alongside a careful bleeding history.
The conversation also highlights an important cautionary message. As genetic testing becomes easier to obtain, clinicians may identify variants that are not truly disease causing. Without appropriate clinical context, this creates a real risk of overdiagnosis, unnecessary anxiety, and inappropriate labeling of patients who do not actually have a clinically meaningful bleeding disorder.
Low VWF requires individualized assessment
One of the longest discussions centers on patients with bleeding symptoms and VWF levels between 30 and 50 IU/dL. The panelists acknowledge that this remains one of the most debated areas in vWD, reflected in recent guideline discussions surrounding the classification of low VWF.
Rather than relying on an arbitrary laboratory threshold, the experts advocate for individualized assessment. A reduced VWF level alone is insufficient to establish disease because many healthy individuals, particularly those with blood group O, fall within this range without abnormal bleeding. Conversely, patients with convincing bleeding histories deserve careful evaluation even when laboratory abnormalities appear modest.
Management similarly depends on the individual patient. Most patients respond well to desmopressin and antifibrinolytic therapy, although formal desmopressin trials remain important. The panel also notes that some patients with disproportionately severe bleeding may have additional platelet function defects or other inherited bleeding disorders that warrant further investigation. Throughout the discussion, longitudinal follow-up, shared decision-making, and careful attention to the patient’s lived experience consistently outweigh reliance on laboratory values alone.
Balancing underdiagnosis and overdiagnosis
A recurring theme throughout the conversation is the importance of striking the right diagnostic balance. The panelists note that von Willebrand disease remains substantially underdiagnosed, yet they caution that increasing reliance on laboratory testing and genetics also creates opportunities for overdiagnosis.
This tension is particularly apparent in children, relatives of affected patients, and individuals with low VWF levels. Some patients with genetic variants or mildly reduced laboratory values may never develop clinically meaningful bleeding, while others with significant bleeding symptoms may initially have inconclusive laboratory findings. Rather than applying rigid diagnostic criteria in every circumstance, the experts advocate for longitudinal assessment, recognizing that bleeding history, laboratory findings, and clinical phenotype often evolve over time. Throughout the discussion, they return to a simple but powerful principle: to have a bleeding disorder, the patient should have clinically meaningful bleeding. Labels should help guide care, not replace clinical judgment.
Pregnancy management extends well beyond delivery
Pregnancy remains one of the greatest management challenges in vWD. Although prophylactic replacement strategies have evolved substantially, postpartum hemorrhage continues to occur at unexpectedly high rates despite higher treatment targets.
Drawing on data from the Dutch PRIDE study, the panel discusses the persistent uncertainty regarding optimal VWF targets during delivery. Raising replacement goals alone has not eliminated severe postpartum hemorrhage, suggesting that additional biological and obstetric factors contribute to bleeding risk.
The experts place particular emphasis on the postpartum period after hospital discharge. Secondary postpartum hemorrhage remains common, and many women present initially to obstetric services rather than their hematology team. The panel argues that patient education is therefore as important as replacement therapy. Women should understand what constitutes normal postpartum bleeding, when bleeding becomes concerning, and how to rapidly access specialized care.
The discussion also highlights practical aspects of supportive care, including postpartum tranexamic acid, aggressive recognition and treatment of iron deficiency, and heightened vigilance in patients with type 2B disease, whose thrombocytopenia can substantially increase bleeding risk.
Rising VWF levels with age do not eliminate bleeding risk
The final discussion addresses an increasingly common clinical scenario: patients with type 1 vWD or low VWF whose laboratory values rise with age or medical comorbidities.
The panel cautions against equating “normalization” of VWF levels with resolution of disease. VWF increases physiologically throughout life, meaning that laboratory reference ranges may not accurately reflect what is normal for an individual at a given age. More importantly, many patients continue to experience clinically important bleeding despite higher laboratory values.
Rather than removing the diagnosis based solely on laboratory normalization, the experts recommend ongoing individualized assessment. Decisions regarding procedural prophylaxis, desmopressin use, VWF replacement, and antiplatelet or anticoagulant therapy should all incorporate bleeding history, comorbidities, procedural risk, and patient preferences. At the same time, the panel recognizes that some individuals diagnosed under older criteria may no longer meet contemporary definitions of vWD and may benefit from thoughtful reassessment to avoid unnecessary treatment or barriers to other medical care.
Shared decision making across the lifespan
The discussion concludes by emphasizing that effective vWD management requires ongoing reassessment rather than one-time decision-making. As patients age, become pregnant, develop cardiovascular disease, or require surgery, management strategies must evolve alongside their changing clinical circumstances.
The panelists stress that clinicians should not reflexively withhold anticoagulants or antiplatelet agents simply because a patient carries a diagnosis of vWD, nor should they assume that improved laboratory values eliminate future bleeding risk. Instead, treatment decisions should balance bleeding history, current laboratory findings, competing medical priorities, and patient preferences through shared decision-making.
Across every topic, from genetic testing and diagnosis to pregnancy, aging, and procedural planning, the experts repeatedly return to the same message: successful care for patients with von Willebrand disease depends on thoughtful clinical judgment that integrates evolving evidence with the individual patient’s history, phenotype, and goals of care.