06 Review of the of the European Association for Haemophilia and Allied Disorders (EAHAD) 19th Annual Congress, 3rd–6th February 2026
Congress Features
17 von Willebrand Disease: 100 Years of Progress and New Horizons
Helena Bradbury
Congress Interview
23 Ana Boban
Infographic
28 The History of von Willebrand Disease
"Create networks, make connections, go home with heads full of plans, and computers full of ideas"
Aims and Scope
EMJ Hematology is an open access, peer-reviewed eJournal committed to publishing the highest quality medical research concerning all aspects of diseases of the blood and bone marrow to help advance the development of this field.
The journal is six weeks after the European Association for Haemophilia and Allied Disorders (EAHAD) Congress, and features highlights from this congress, alongside an interview with an expert in the field, as well as an in-depth feature on a congress session, and an infographic.
EMJ Hematology also publishes peer-reviewed research papers, review articles, and case reports in the field. In addition, the journal welcomes the submission of features and opinion pieces intended to create a discussion around key topics in the field and broaden readers’ professional interests. The journal is managed by a dedicated editorial team that adheres to a rigorous double-blind peer-review process, maintains high standards of copy editing, and ensures timely publication.
EMJ Hematology endeavours to increase knowledge, stimulate discussion, and contribute to a better understanding of blood disorders. Our focus is on research that is relevant to healthcare professionals in this field. We do not publish veterinary science papers or laboratory studies not linked to patient outcomes. We have a particular interest in topical studies that advance research and inform of coming trends affecting clinical practice in haematology.
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This Publication
Publication Date: March 2026 Online ISSN: 2053-6631
All information obtained by EMJ and each of the contributions from various sources is as current and accurate as possible. However, due to human or mechanical errors, EMJ and the contributors cannot guarantee the accuracy, adequacy, or completeness of any information, and cannot be held responsible for any errors or omissions. Although EMJ is independent of the EAHAD 2026 review event, EMJ and EAHAD have signed a media partnership. The cover photo is of Dublin, Ireland, the location of EAHAD 2026.
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Welcome
Dear Readers,
Welcome to this special issue, featuring our comprehensive coverage of the European Association for Haemophilia and Allied Disorders (EAHAD) 19th Annual Congress, a landmark event exploring the latest developments in haemophilia and bleeding disorders. This year’s congress brought together leading experts to discuss emerging research, evolving treatment strategies, and the future of care for patients worldwide.
In this issue, we present a review of the key highlights from EAHAD 2026, alongside a feature exploring ‘von Willebrand disease: 100 years of progress and new horizons’. Complementing this, our infographic traces the history of von Willebrand disease, illustrating the major milestones that have shaped understanding and management of this condition.
This year’s congress brought together leading experts to discuss emerging research, evolving treatment strategies, and the future of care for patients worldwide
We are also pleased to include an exclusive interview with Ana Boban, who shares her perspectives on current challenges, advances in research, and the future direction of the field.
As we look ahead to the publication of EMJ Hematology in July, we hope you enjoy this timely insight into the latest advancements in haemophilia care, setting the stage for future innovations in the field.
Helena
Bradbury Editorial Lead
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European Association for Haemophilia and Allied Disorders
Knowledge. Collaboration. Impact.
Who we are
We are a multidisciplinary professional community dedicated to improving outcomes for people living with haemophilia and other rare bleeding disorders. Since 2007, we have united haematologists, nurses, physiotherapists, researchers, laboratory scientists and other professionals from across Europe to advance clinical excellence, education and scientific innovation.
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The EAHAD Academy gives you access to a rich library of e-learning modules, expert interviews and specialist education designed to strengthen clinical practice and spark innovation across disciplines. Topics range from gene therapy, women’s health, and chronic pain management to physiotherapy principles and best practices in haemophilia care. academy.eahad.org
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Short, engaging episodes hosted by thought leaders in the field that bring expert insights straight to your ears. Available on Spotify and Apple Podcast.
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EAHAD 2026
Over 2,000 delegates from over 77 countries gathered for the 19th annual EAHAD Congress
Congress Review
Review of the European Association for Haemophilia and Allied Disorders (EAHAD)
IN the vibrant city of Dublin, Ireland, over 2,000 delegates from over 77 countries gathered for the 19th annual European Association for Haemophilia and Allied Disorders (EAHAD) Congress, to recognise the history, advancements, and persisting challenges in the field of haemophilia and associated disorders.
Niamh O’Connell, Consultant Haematologist, National Coagulation Centre (NCC), St James’s Hospital, Dublin, and the EAHAD 2026 Congress President, opened the event by highlighting the society’s missions and aims: to deliver high-quality clinical care, elevate education, and progress scientific research. Referencing the Irish word ‘meitheal’, meaning a collective voluntary effort by a community for the common good, based on reciprocity and trust, O’Connell drew similarities between this mindset and the approach of EAHAD: a unified community brought together with the aim of advancing haemophilia care. Closing her welcome, she encouraged everyone to make the most of the event: “Create networks, make connections, go home with heads full of plans, and computers full of ideas.”
Following the welcome, a comprehensive summary of the ‘Allied Healthcare Professionals’ Day’ was offered. This day, which took place on 3rd February, was a multidisciplinary event aimed to showcase the role of nurses, physiotherapists, and psychosocial professionals (PP) in the care
and management of bleeding disorders. It featured both joint sessions, designed for all specialities, as well as streamed sessions tailored for each speciality. The joint session this year focused on the theme of family consultations, tackling a range of topics from intergenerational guilt, to navigating complex family dynamics and supporting young people with haemophilia.
Christina Burgess, Haemophilia and Bleeding Disorders Counselling Association (HBDCA), specifically summarised the PP stream, which were two sessions specifically aimed at PPs, recognising the emerging mental and social issues in patients, and offering guidance on psychosocial care offered at important transition points, such as trauma-sensitive care for a new diagnosis, the EAHAD European psychosocial principles for gene therapy, and the use of eye movement desensitisation and reprocessing therapy in treating anxiety and adjustment disorders in patients with haemophilia.
Maj Friberg Birkedal, Rigshospitalet, Copenhagen, Denmark, then took the
stage to offer more detail on the nursing stream sessions, starting with the classic SLAM session, which, as noted by Birkedal, “showcased the power of engaging nurseled research projects.” The SLAM session, a highlight of each EAHAD Congress, is an opportunity for healthcare professionals and researchers to present top-selected abstracts. Whilst topics did vary, the nurse stream SLAM session focused on the development of new care strategies and evaluating the impact of implementation. The winner of the SLAM session was Cristina Benedicto Moreno, Sant Joan de Déu Barcelona Hospital, Spain, with their abstract titled ‘Implementation of a Nursing-led Remote Evaluation for the Assessment and Prioritization of Adolescents with Heavy Menstrual Bleeding’. The remaining sessions touched on the procedure-related anxiety in children and a masterclass on mucosal bleeds.
The SLAM session is an opportunity for healthcare professionals and researchers to present top-selected abstracts
Finally, Ruth Elise Dybvik Matlary, Oslo University Hospital, Norway, summarised the physiotherapists' stream. It began with a SLAM session, with topics covering blood-induced joint damage in Glanzmann thrombasthenia, patterns of habitual exercise among children with haemophilia, and long-term survival of hip and total knee arthroplasty in people with haemophilia, among others. The winner of the SLAM session was Paula Loughnane, Trinity College Dublin, with their abstract titled ‘Patterns of Habitual Physical Activity among Irish Children and Adolescents with Haemophilia’. Following this, there was an informative session centred around joint health, including prehabilitation, intervention, and recovery, and finally, a debate that ‘all people with bleeding disorders should have an annual musculoskeletal review’.
Rose Anne Kenny, Chair of Medical Gerontology, Trinity College and St James Hospital, subsequently took the stage, giving a talk on evidence-based
strategies for successful ageing. She began summarising the following terms: ‘lifespan’, which is the maximum number of years an individual can live; ‘life expectancy’, which is the average age an individual can expect to live at different stages of life; and ‘health span’, which is the number of years an individual is healthy without chronic and debilitating disease.
However, as highlighted by Kenny, the world’s population is ageing. Between 2023–2100, the population of people aged 65 years or over is set to increase by 49% in Albania, 41% in China, 34% in France, and 30% in the USA.1 She highlighted the disparity between life expectancy and health-adjusted life expectancy, citing data showing that the gap between the two widened by 13% from 2000 to 2019. Delving into this further, there is also a reported sex difference, with women presenting a mean health span–life span gap of 2.4 (0.5 years) wider than men (p<0.001). This gap was found to be positively associated with the burden of noncommunicable diseases and total morbidity, and negatively with mortality. Finally, she shared data that showed that mental and substance use disorders, musculoskeletal disease, and unintentional injuries contributed the most to years lived with disability in the USA.2
Kenny then touched on the issue of multimorbidities, the presence of multiple medical conditions, which is known to increase with age.3 She referenced data from a 2019 study, which investigated the disease associations in 6,101 Irish adults aged over 50 years.
Between 2023–2100, the population of people aged 65 years or over is set to increase by 49% in Albania, 41% in China, 34% in France, and 30% in the USA
Results found the estimated lifetime prevalence of multimorbidity for older Irish adults was 73.25%, with only 9.08% not expressing any of the 31 diseases studied.3 As emphasised by Kenny, this is important as these pre-existing conditions should be factored by healthcare professionals when assessing a patient's care plan. The researchers of this study then set out to investigate the likelihood of these comorbidities occurring more than by random chance.
A network of co-morbidities found that high cholesterol, arthritis, and hypertension were among some of the most highly prevalent morbidities among males.
In conclusion, the 19th Annual Congress of EAHAD highlighted the continued progress being made in haemophilia and bleeding disorder care, while also acknowledging the evolving challenges facing the community. Through multidisciplinary collaboration, the meeting showcased the vital contributions of clinicians, nurses, physiotherapists, PPs, and researchers in improving patient outcomes.
The 19th Annual Congress of EAHAD highlighted the continued progress being made in haemophilia and bleeding disorder care, while also acknowledging the evolving challenges facing the community
European Study Reveals Burden of Glanzmann Thrombasthenia
A EUROPEAN prospective study presented at EAHAD 2026 provided new insights into the clinical burden of Glanzmann thrombasthenia, highlighting significant gaps in the evidence guiding its management. The study, which is ongoing across multiple European centres, systematically collects clinical, laboratory, and patient-reported data to improve understanding of this rare bleeding disorder.4
Glanzmann thrombasthenia is a rare inherited platelet disorder caused by the absence or dysfunction of the αIIbβ3 integrin receptor, which is essential for platelet aggregation. Patients experience lifelong mucocutaneous bleeding, including epistaxis, menorrhagia, and gastrointestinal bleeding. Although treatments such as tranexamic acid, recombinant activated Factor VII, and platelet transfusions are widely used, there is no consensus on optimal dosing or timing, particularly in high-risk scenarios, such as major surgery.
The Glanzmann Natural History Study (GNHS) is a prospective, multinational observational study including both paediatric and adult patients. It collects baseline clinical characteristics, bleeding history, comorbidities, patient-reported outcome measures, and quality-of-life data. Participants are followed longitudinally to document bleeding episodes, surgical interventions, and treatment responses. An additional ‘plus’ component includes genetic analyses to explore genotype–phenotype correlations and screening for alloantibodies against platelet antigens and human leukocyte antigens, reflecting the high lifetime exposure to platelet transfusions in this population.
As of early 2026, 32 patients had been enrolled, with 50–100 additional participants expected by the end of the year, aiming for a total accrual of 200 patients. Among the enrolled cohort, 50% were
female, and patients represented all major Glanzmann thrombasthenia types (Types 1, 2, and 3). Significant comorbidities were observed, including two intracranial bleeds, four peripheral venous thrombotic events, one myocardial infarction, and one ischaemic stroke. Almost half of patients required continuous iron supplementation, indicating ongoing blood loss from mucocutaneous or gastrointestinal bleeding. Over a recent 4-week period, 40% of patients required medical treatment for bleeding.
The study also evaluated bleeding assessment tools. Traditional lifetime bleeding scores were found to be limited for detecting short-term changes following interventions. A short-term, patient-reported Immune Thrombocytopenia Purpura Bleeding Assessment Tool (ITP-BAT) demonstrated correlation with lifetime scores and sensitivity to recent changes, supporting its potential use for monitoring responses to therapy, including platelet transfusions, recombinant Factor VIIa, and emerging treatments.
Despite significant regulatory and logistical challenges, the GNHS has successfully engaged multiple European centres, providing a robust platform for ongoing data collection. The study continues to track clinical outcomes, interventions, and antibody prevalence, representing a crucial step toward developing evidence-based strategies for managing this rare but serious disorder.
MRI-Detected Joint Improvements with Emicizumab Prophylaxis
THIS prospective, observational, multicentre study presented at EAHAD 2026 evaluated the impact of emicizumab prophylaxis on joint outcomes in children with severe haemophilia A using both clinical measures and MRI-based structural assessment. Children with severe haemophilia A are at high risk of recurrent joint bleeding, which can lead to progressive arthropathy and reduced quality of life. While previous research on emicizumab has largely focused on clinical outcomes, this study aimed to assess its real-world effects on joint structure using MRI alongside established clinical scoring systems.5
The mean annual bleeding rate decreased from 50.00 to 0.46 (p<0.001), while the mean HJHS improved from 13 to 8 (p<0.001)
Male children aged <18 years with severe haemophilia A receiving emicizumab prophylaxis were enrolled. Participants underwent clinical and MRI evaluation of index joints at baseline and after 12 months of treatment. Clinical outcomes included changes in annual bleeding rate and the Haemophilia Joint Health Score (HJHS). Structural joint changes were assessed using MRI according to the International Prophylaxis Study Group (IPSG) MRI Scale Version 1.0.
A total of 39 children with severe haemophilia A were included, with a median age of 8 years (range: 4–17 years). In total, 54 joints were assessed, including 33 knees, 12 ankles, and nine elbows. After 1 year of emicizumab prophylaxis, both clinical and radiological outcomes improved significantly. The mean annual bleeding rate decreased from 50.00 to 0.46 (p<0.001), while the mean HJHS improved from 13 to 8 (p<0.001).
At baseline, MRI evaluation showed joint effusions in 100% of joints, with 50.0%, 22.2%, and 27.8% classified as small, moderate, and large effusions, respectively. After 12 months, moderate effusions decreased significantly to 11.1%, and no joints presented with large effusions. Synovial hypertrophy declined from 83.3% to 61.1%, and haemosiderin deposition decreased from 66.7% to 16.7% (p<0.001). Osteochondral changes improved in 22.2% of joints, while 5.6% showed progression. Overall, 88.9% of joints demonstrated improvement on MRI and 11.1% remained stable.
These findings indicate that emicizumab prophylaxis provides meaningful clinical and structural joint benefits, supporting its role in slowing joint disease progression and improving long-term musculoskeletal outcomes in children with severe haemophilia A.
Reference Values Enhance Interpretation of Haemophilia Joint Health Scores
NEW research presented at EAHAD 2026
introduces age-specific reference values for the Haemophilia Joint Health Score (HJHS), offering clinicians a more contextualised approach to monitoring joint health in patients with severe haemophilia.6
The HJHS is a standardised physical examination performed annually to assess joint status in people with haemophilia. Six index joints (both elbows, knees, and ankles) are evaluated to generate a composite score ranging from 0–124, with higher scores indicating poorer joint health. Although widely used in routine practice and research, interpretation of HJHS results can be challenging. Current assessment relies heavily on comparison with a patient’s prior scores and the experience of the examining clinician and does not account for expected age-related changes in joint health.
To address this gap, Nguyen and colleagues analysed data from the Canadian Bleeding Disorder Registry (CBDR) collected between 2018–2024. The study included 551 individuals aged 4 years and older with severe haemophilia A or B. The cohort had a mean age of 24 years, with 54% classified as adults. Most participants (87%) had haemophilia A, 64% were receiving factor replacement therapy, and a 81% had negative inhibitor status.
Using Generalised Additive Models for Location, Scale, and Shape (GAMLSS), the investigators generated percentile curves (5th, 10th, 25th, 50th, 75th , 90th, and 95th) across ages 4–70 years. The resulting curves demonstrated a sigmoid trajectory, with joint deterioration accelerating from early adulthood to approximately 40 years of age, followed by a gradual deceleration into older adulthood. Internal validation showed good calibration, with an expected-toobserved ratio of 1.05. The model was also able to significantly discriminate between haemophilia type (p=0.026) and inhibitor status (p<0.001).
These reference values enable clinicians to compare an individual patient’s HJHS with age-matched peers and monitor changes in percentile ranking over time. This approach provides clearer clinical context and may improve early identification of disproportionate joint deterioration.
The authors note that the model reflects therapies available between 2018–2024 and is limited to patients with severe haemophilia in Canada. International validation and expansion to broader patient populations will be important next steps to support wider implementation and global comparability of joint health outcomes.
These reference values enable clinicians to compare an individual patient’s HJHS with age-matched peers and monitor changes in percentile ranking over time
Ribosomal Readthrough Stratifies Inhibitor Risk in F8 Nonsense Mutations
NEW research presented at EAHAD 2026 explored why some patients with haemophilia A who carry factor VIII nonsense mutations develop inhibitors to replacement therapy, while others do not.7
Inhibitor formation occurs in around 30% of patients receiving therapeutic Factor VIII and represents one of the most serious complications of treatment. Although large gene deletions are known to carry high inhibitor risk, nonsense mutations have traditionally been considered ‘nonconditioned’ but show highly variable inhibitor rates. This study aimed to explain that variability.
The investigators focused on premature termination codons in the factor VIII gene and the phenomenon of ribosomal readthrough. In some cases, the ribosome can bypass a stop codon and produce a full-length protein. If the authentic (wildtype) amino acid is reinserted at the stop position, endogenous factor VIII may retain normal immunological properties, potentially reducing inhibitor risk. The hypothesis was that patients whose mutations allow wildtype readthrough may develop immune tolerance, whereas those who do not are at higher risk of inhibitors.
Patients were classified according to predicted wild-type readthrough and inhibitor status. The results showed that patients without inhibitors had a higher proportion of mutations predicted to undergo wild-type readthrough. In contrast, those with high-titre or multiple inhibitors had far fewer such mutations. Certain stop codon classes were associated with different risks: some codons (such as UAA-type variants) showed higher rates of wild-type readthrough and lower inhibitor prevalence, while others (such as UGA-type variants) were associated with higher risk. Mutation location also mattered, with highly immunogenic domains (particularly C1 and C2) showing lower wild-type readthrough and higher inhibitor association.
To support these findings, the team expressed 45 different premature termination codon variants in vitro using a luciferase-based system to quantify fulllength factor VIII production. While overall protein levels did not differ significantly between groups, within the non-wild-typereadthrough group, lower levels of full-length factor VIII were associated with inhibitor development, supporting a protective role for endogenous protein expression.
Finally, in silico analyses evaluated HLA-DRB allele binding affinity of peptides derived from readthrough-generated variants. Mutations associated with inhibitors showed greater predicted immunogenic differences between therapeutic and endogenous factor VIII. In contrast, mutations linked to inhibitor absence showed more similar predicted human leukocyte antigen (HLA)-binding profiles, suggesting reduced immune activation.
In conclusion, the study proposes a refined classification of factor VIII nonsense mutations based on their likelihood of wild-type readthrough and HLA-binding characteristics. This approach could allow graded prediction of inhibitor risk using both mutation type and HLA genotype, potentially supporting more personalised management strategies in haemophilia A.
Inhibitor formation occurs in around 30% of patients receiving therapeutic factor VIII and represents one of the most serious complications of treatment
Emicizumab Enables Time-Limited Management in Acquired Haemophilia A
AT EAHAD 2026, investigators presented new real-world data suggesting that emicizumab provides effective, time-limited haemostatic control in patients with acquired haemophilia A (AHA), with treatment duration linked to inhibitor levels at diagnosis.8
AHA is a rare autoimmune bleeding disorder caused by inhibitory autoantibodies targeting endogenous factor VIII. Approximately half of cases are associated with an underlying condition, such as cancer, autoimmune disease, or the postpartum state. Standard management has traditionally involved two parallel strategies: haemostatic control with bypassing agents and eradication of the inhibitory autoantibodies using immunosuppressive therapy. However, these approaches are associated with substantial mortality, driven by infection related to immunosuppression and persistent bleeding complications.
The introduction of emicizumab has transformed the therapeutic landscape, offering effective bleed prevention and potentially reducing the need for aggressive early immunosuppression. While its role as first-line haemostatic therapy is increasingly established, questions remain regarding optimal treatment duration and long-term management.
To address this, researchers conducted a retrospective, multicentre observational study including 34 patients diagnosed with AHA between January 2020–October 2025. The median age was 74 years, and 47% of patients presented with major bleeding at diagnosis. Median activated partial thromboplastin time was 83.8 seconds, median factor VIII levels were 1%, and median inhibitor titre was 53 Bethesda units/mL.
An underlying aetiology was identified in 47% of cases, including cancer in 29% of patients.
Over a median follow-up of 2.1 years, no recurrent bleeding events were observed after initiation of emicizumab, confirming its effectiveness as a haemostatic agent in this setting. Importantly, treatment was not indefinite: the median duration of emicizumab therapy was 149 days, reflecting successful inhibitor eradication and treatment discontinuation in most patients.
A key finding was the significant association between inhibitor titre at diagnosis and duration of emicizumab therapy. Higher inhibitor levels at diagnosis were linked to longer treatment duration, suggesting that baseline inhibitor burden may help guide decisions on when to safely discontinue therapy. No significant association was observed between the type of immunosuppressive regimen and emicizumab duration, although heterogeneity in immunosuppressive approaches and the retrospective design may have introduced bias.
In summary, these data reinforce emicizumab as an effective and time-limited haemostatic strategy in AHA. Baseline inhibitor levels may serve as a practical marker to individualise treatment duration, supporting a more tailored and potentially safer long-term management approach in this high-risk population.
Inhibitor Risk Across FVIII Concentrates in Previously Untreated Patients
THIS analysis from the PedNet Registry, presented at EAHAD 2026, evaluated the risk of inhibitor development associated with individual factor VIII (FVIII) concentrates in previously untreated patients (PUP) with severe haemophilia A. Replacement therapy with FVIII is essential for the treatment and prevention of bleeding episodes; however, the development of neutralising inhibitors complicates treatment in approximately 30% of patients during the first 50 exposure days (ED). Understanding inhibitor risk across specific FVIII products is therefore important, particularly as FVIII remains the most effective therapy for breakthrough bleeding and surgical procedures.9
PUPs with severe haemophilia A born between 2000–2024 were followed until inhibitor development or until 50 EDs. The study compared inhibitor risk across different classes of FVIII concentrates, including plasma-derived FVIII and recombinant FVIII (rFVIII), as well as standard half-life and extended halflife recombinant products. Multivariate Cox regression analysis was performed to compare risks while adjusting for differences in follow-up and other known risk factors for inhibitor development, including prophylaxis with emicizumab. Results were reported as rate ratios (RR) with 95% CI.
A total of 1,503 PUPs were included in the analysis. Inhibitors developed in 444 patients after a median of 12 EDs, corresponding to a cumulative incidence of 31.0% (95% CI: 28.6–33.4%). Compared with standard half-life rFVIII products, the risk of inhibitor development was similar for plasma-derived FVIII (RR: 0.89; 95% CI: 0.69–1.14) and extended half-life rFVIII (RR: 1.10; 95% CI: 0.75–1.61).
Nine individual FVIII concentrates used by at least 40 PUPs were analysed. Advate (Takeda Pharmaceutical Company, Tokyo, Japan; n=392) served as the reference product because it had the largest available dataset. Two concentrates showed a significantly increased inhibitor risk: Kogenate FS (Bayer, Berkeley, California, USA)/Helixate NexGen (CSL Behring, King of Prussia, Pennsylvania, USA; 307 PUPs; RR: 1.40; 95% CI: 1.07–1.82; p=0.013) and Fanhdi (Grifols, Barcelona, Spain; 50 PUPs; RR: 1.72; 95% CI: 1.11–2.68; p=0.024).
Overall, inhibitor incidence was comparable across FVIII product classes, although increased risk was observed for Kogenate FS/Helixate NexGen and, for the first time, the plasma-derived product, Fanhdi. Despite changing treatment patterns in the era of emicizumab, the PedNet registry will continue monitoring inhibitor risk associated with individual FVIII concentrates.
References
1. Bampi MD et al. Ontology-driven monitoring system for ambient assisted living. Knowl Eng Rev. 2025;40:e2.
2. Garmany A, Terzic A. Global healthspan-lifespan gaps among 183 world health organization member states. JAMA Netw Open. 2024;7(12):e2450241.
3. Hernández B et al. Investigation of multimorbidity and prevalent disease combinations in older Irish adults using network analysis and association rules. Sci Rep. 2019;9(1):14567.
4. Schutgens R et al. Glanzmann Natural History Study. EAHAD 2026 Congress, 3-6 February, 2026.
5. Laila Sherief. MRI-based assessment of joint outcome in children with severe hemophilia A: a prospective observational study. EAHAD 2026 Congress, 3-6 February 2026.
6. Nguyen KT et al. Reference values for the haemophilia joint health score in patients with severe haemophilia derived from the Canadian bleeding disorder registry. EAHAD Congress 2026, 3-6 February, 2026.
7. Testa MF et al. A novel genetic classification of inhibitor risk for F8 nonsense mutations based on immunogenic profiling of ribosomal readthrough in EAHAD database. EAHAD Congress 2026, 3-6 February, 2026.
8. Erard M et al. Long-term outcome of patients with acquired haemophilia A in the era of emicizumab. EAHAD Congress 2026, 3-6 February, 2026.
9. Martin Olivieri. Update on inhibitor development for individual FVIII concentrates in PUPs with severe haemophilia A in the PedNet registry. EAHAD 2026, 3-6 February 2026.
von Willebrand Disease: 100 Years of Progress and New Horizons
THE 2026 ANNUAL Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) placed special emphasis on the centenary of von Willebrand disease (VWD), first described in 1926 by Erik von Willebrand. This milestone provided an opportunity to reflect on a century of scientific progress and clinical advancement.
The Arosenius Lecture, dedicated to fostering innovation in haemophilia research and care, commemorated this anniversary by tracing the historical evolution of the disease, reviewing key developments in its diagnosis and management, and exploring future directions in research and treatment.
PAST, PROGRESS, AND PATH FORWARD
James O’Donnell, Consultant Haematologist at the National Coagulation Centre, St James’s Hospital, Dublin, Ireland, opened his lecture by reflecting on the historical foundations of VWD. First described in 1926 in a 5-year-old girl, VWD is now recognised as the most common inherited bleeding disorder, affecting approximately 1% of the general population.1 Clinically, it is characterised by mucocutaneous bleeding symptoms, including epistaxis, gingival bleeding, easy bruising, menorrhagia, and prolonged bleeding following trauma, dental procedures, or surgery. O’Donnell emphasised that, beyond improved clinical recognition, significant advances have been made in understanding the complex biology of the disease. Under physiological conditions, von Willebrand factor (VWF) biosynthesis is largely confined to endothelial cells and megakaryocytes. The VWF monomer consists of 2,050 amino acids, while its propeptide comprises 741 amino acids, reflecting the structural and functional complexity that underpins its critical role in haemostasis.
O’Donnell then discussed in detail the biosynthesis of VWF, explaining that monomer formation occurs within endothelial cells, where VWF is synthesised as a 250 kDa precursor monomer.2 Within the endoplasmic reticulum, C-terminal disulphide bonds form, resulting in dimerisation. These dimers are subsequently transported to the Golgi apparatus, where N-terminal disulphide bonds facilitate multimerisation. The mature VWF is ultimately secreted into the plasma as a heterogeneous array of multimers, each composed of approximately 40–100 monomeric subunits.
“I think it’s very important to remember, and something that’s often forgotten, is that VWF actually exists in vivo as several discrete pools,” noted O’Donnell. He went on to outline the four principal VWF pools currently recognised.3 First, heterogeneous multimeric VWF is secreted from endothelial cells and circulates freely in the plasma. Second, high molecular weight VWF multimers are stored within Weibel–Palade bodies, specialised, rod-shaped secretory organelles unique to endothelial cells that serve as storage sites for VWF
and P-selectin. Third, high molecular weight VWF multimers are also contained within platelet α-granules, accounting for approximately 15% of the total VWF present in platelet-rich plasma. Finally, a small proportion of VWF remains bound within the extracellular matrix of the vessel wall following endothelial secretion.3
OVERVIEW OF THE COAGULATION CASCADE AND DYSREGULATION IN VON WILLEBRAND DISEASE
So, what is the function of VWF? As described by O’Donnell, VWF primarily acts as a carrier protein for Factor VIII, stabilising it in the circulation and protecting it from proteolysis and premature clearance. In the event of vascular injury, subendothelial collagen is exposed, triggering the release of VWF from endothelial cells. VWF binds to collagen and recruits platelets to the site of injury, facilitating platelet adhesion and aggregation to form the initial platelet plug, an essential step in primary haemostasis.
Secondary haemostasis involves activation of the coagulation cascade through the intrinsic and extrinsic pathways. The intrinsic pathway includes Factors XII, IX, and VIII, ultimately leading to activation of Factor X. The extrinsic pathway is initiated by tissue factor and Factor VII, which also activate Factor X. Both pathways converge on the common pathway, where activated Factor X, in the presence of calcium and Factor V, converts prothrombin (Factor II) into thrombin. Thrombin then cleaves fibrinogen (Factor I) to form fibrin, an elastic, fibrous protein that stabilises the clot. VWD predominantly affects primary haemostasis by impairing platelet adhesion and aggregation. However, it also influences secondary haemostasis through reduced stabilisation of Factor VIII, thereby linking defects in VWF to abnormalities in both platelet function and coagulation.4
VWF primarily acts as a carrier protein for Factor VIII, stabilising it in the circulation and protecting it from proteolysis and premature clearance
than 15,000 VWD-related publications indexed on PubMed. A major milestone was reached in 2021 with the publication of comprehensive, evidence-based guidelines developed collaboratively by the American Society of Hematology (ASH), the International Society on Thrombosis and Haemostasis (ISTH), the National Hemophilia Foundation (NHF), and the World Federation of Hemophilia (WFH).5 These guidelines were grounded in a systematic review of the available evidence and represented an important step towards standardising diagnosis and management.
However, as O’Donnell emphasised, important limitations remain. Of the 11 diagnostic recommendations in the 2021 ASH guidelines,5 nine were graded as conditional suggestions rather than strong recommendations. Similarly, all eight management recommendations were classified as suggestions, underscoring the continued reliance on low- to moderatecertainty evidence in many areas of VWD care. Looking ahead, several key research gaps persist. First, there is a need for a clearer definition of the clinical significance of mild-to-moderate reductions in plasma VWF levels (30–50 IU/dL). Second, further investigation is required to better understand the emerging non-haemostatic functions of VWF. Finally, the development of novel therapeutic strategies remains a priority to enhance and individualise the clinical management of VWD.
range should be classified as having “low VWF.” This represents the most common diagnostic category within the VWD spectrum, estimated to affect more than 7.5 million individuals in the USA alone.6
He then drew attention to the Low Von Willebrand in Ireland Cohort Study (LoVIC), a prospective longitudinal cohort study that has generated several important publications in this field. Data from LoVIC have shown that a proportion of patients with mild-to-moderate reductions in VWF levels nonetheless experience clinically significant bleeding.3 In a 2017 study, more than 70% of female participants had elevated bleeding assessment tool (BAT) scores.7 Comparable findings were reported in the Zimmerman Program, where over 62% of individuals within the “low VWF” cohort demonstrated an increased ISTH BAT score.8 However, this association has not been consistently observed across all populations. For example, a 2020 study found no significant increase in bleeding symptoms among children with mild-tomoderate reductions in VWF levels.9
Summarising these findings, O’Donnell concluded that a small, but clinically important, subset of patients with mildto-moderate reductions in VWF levels exhibit a bleeding phenotype that remains unexplained.10 He further highlighted the observed overlap between this subgroup and patients diagnosed with bleeding disorder of unknown cause, suggesting that as-yet unidentified genetic or biological modifiers may link the two conditions.
A deeper understanding of these interactions may help explain the bleeding phenotype observed in a subset of patients with "low VWF"
EMERGING RESEARCH
So, what are the future research priorities in VWD? First, O’Donnell emphasised the need to define the pathogenic mechanisms responsible for VWD in families in whom no causative VWF sequence variant can be identified. Second, it remains crucial to understand why some individuals with mild-to-moderate reductions in plasma VWF levels experience significant bleeding, while others do not. Recent work has demonstrated that VWF interacts with a broad network of proteins, with more than 50 ligand-binding partners reported to date.11 A deeper understanding of these interactions may help explain the bleeding phenotype observed in a subset of patients with “low VWF.” These ligand interactions influence multiple aspects of VWF biology, including its biosynthesis, intracellular trafficking within endothelial cells, susceptibility to proteolysis in the circulation, and regulation of cellular clearance pathways.
Beyond haemostasis, emerging research has identified additional biological roles for VWF. It has been implicated in the regulation of angiogenesis,12 while binding of growth factors to the VWF-A1 domain appears to contribute to wound-healing processes.13 More recently, VWF has also been shown to play a role in modulating innate immune responses.14
O’Donnell also highlighted the significant clinical burden faced by women with low VWF, particularly heavy menstrual bleeding. Data from a 2017 study showed that 40% of affected women required time off work or school, 36% required iron therapy, 24% underwent dilatation and curettage, and 8% required hysterectomy, figures that underscore the substantial impact on quality of life.7
Finally, several novel therapeutic strategies are emerging in VWD, including a pegylated aptamer (rondoraptivon pegol, BT200), a bispecific nanobody (KB-V13A12), and a monovalent antibody (HMB-002), reflecting a shift towards more targeted and mechanism-based treatment approaches.
CONCLUSION
In conclusion, the Arosenius Lecture highlighted both the remarkable progress made in understanding VWD and the significant challenges that remain. A century after its first description, advances in molecular biology, clinical phenotyping, and evidence-based guidelines have transformed patient care. Yet important uncertainties persist, particularly regarding
References
1. Centers for Disease Control and Prevention (CDC). Data and statistics on von Willebrand disease. Available at: https://www.cdc.gov/vonwillebrand/data/index.html. Last accessed: 23 February 2026.
2. Leebeek FWG, Eikenboom JCJ. Von Willebrand's disease. N Engl J Med. 2016;375(21):2067-80.
3. Fernandez MF et al. Multimeric structure of platelet factor VIII/von Willebrand factor: the presence of larger multimers and their reassociation with thrombinstimulated platelets. Blood. 1982;60(5):1132-8.
4. National Bleeding Disorders Foundation. The clotting cascade. Available at: https://www.bleeding. org/educational-programs/education/ online-education/the-clotting-
the mechanisms underlying “low VWF,” variability in bleeding phenotype, and the broader biological roles of VWF beyond haemostasis. Emerging insights into VWF interactions and novel therapeutic strategies offer promising avenues for more personalised management. Ultimately, the next phase of research will be critical in translating biological discovery into improved outcomes for patients.
cascade. Last accessed: 23 February 2026.
5. James PD et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021;5(1):280-300.
6. Nichols WL et al. von Willebrand disease (VWD): evidence-based diagnosis and manage-ment guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia. 2008;14:171-232.
7. Lavin M et al. Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels. Blood. 2017;130(21):2344-53.
8. Flood VH et al. Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood. 2016;127(20):2481-8.
9. Gill JC et al. Low VWF levels in children and lack of association with bleeding in children un-dergoing tonsillectomy. Blood Adv. 2020;4(1):100-5.
10. O’Donnell JS, Baker RI. Low von Willebrand disease: a bleeding disorder of unknown cause? Hamostaseologie. 2023;43(1):44-51.
11. Atiq F, O’Donnell JS. Novel functions for von Willebrand factor. Blood. 2024;144 (12):1247-56.
12. Starke RD et al. Endothelial von Willebrand factor regulates angiogenesis. 2011;117(3):1071-80.
National Coagulation Centre (NCC), St James’s Hospital, Dublin, Ireland; Treasurer and Congress President, EAHAD
Congress Interview
We had the pleasure of speaking with Ana Boban, President of the European Association for Haemophilia and Allied Disorders (EAHAD) and Head of the Haemophilia Centre at the University Hospital Centre Zagreb, Croatia. In this interview, she shares her vision for EAHAD’s 2026–2028 term, discussing priorities such as harmonising care across Europe, advancing research and education in inherited bleeding disorders, and supporting clinicians and patients in an evolving therapeutic.
Featuring: Ana Boban
Ana Boban
President, European Association for Haemophilia and Allied Disorders (EAHAD); Head of the Haemophilia Centre, University Hospital Centre Zagreb, Croatia
This year’s congress attracted delegates and speakers from almost 80 countries all over the world
Q1What is your overarching vision for the European Association for Haemophilia and Allied Disorders (EAHAD) during your 2026–2028 term, and what are the key priorities you hope to achieve?
The goals have always been the same, with core EAHAD activities focused on advancing care for patients with inherited bleeding disorders; first haemophilia, but also von Willebrand disease (VWD) and other rare bleeding disorders. Although the name of the organisation stresses haemophilia, we are also taking care of the entire community of inherited bleeding disorders. All our steps, research, education, and congresses aim to increase the quality of care for patients.
However, if I had to choose one outcome or one goal, it would be trying to harmonise care across all European countries. Obviously, that is not an easy
task, due to the huge differences between countries in economic status, culture, geography, education, availability of drugs, and organisation of healthcare systems. Taking all that together, it is a difficult task, but as a European organisation, we are at least trying to achieve equity, so that all patients have access to both diagnosis and treatment.
On the other hand, although EAHAD is a European organisation, it has a global impact on the haemophilia community. This year’s congress attracted delegates and speakers from almost 80 countries all over the world, and the results of the major clinical outcomes and studies were presented.
Q2 How do you plan to build on the successes of previous leadership while addressing the evolving challenges in haemophilia and allied disorders?
The projects EAHAD is running are usually long-term ones. The term of the president lasts 2 years, but I was serving as Vice President for 2 years, and will be serving as Past President for 2 years. Therefore, it is a period of 6 years where one can develop a programme, and commonly the new leadership continues the work and builds on it.
The EAHAD is running a number of projects, some on the level of the Executive Committee, some on the level of the working groups. We have several working groups focusing on the treatment of haemophilia, but also other aspects of management of haemophilia and other inherited bleeding disorders. We have a working group on Glanzmann thrombasthenia, on very rare bleeding disorders, and now we have established the group for VWD. The groups have been very
active, which is also seen in the Congress presentations, published data, and statement papers.
When I joined EAHAD, I started a working group on the new accreditation process of haemophilia centres. Almost 200 haemophilia centres in Europe are certified by EAHAD, and are designated as haemophilia treatment centres or comprehensive care centres. The first goal of the working group was to update the guidelines for certification, so they reflect the advancements in treatment and the current management of patients with haemophilia, including gene therapy. Now, we are proposing a new protocol for the auditing of haemophilia centres. The pilot project is finished, and we are deciding how to move forward. Our goal is to have at least one EAHADaccredited haemophilia centre in every European country, and active EAHAD members from all European countries. With that, we will have a much clearer picture of what is missing and what is needed, in terms of organisation, education and
research, and finally, how we can help local countries achieve the standards for high-quality haemophilia centres.
Q3Are there specific areas within clinical practice, research, or education where you see the greatest opportunity for impact during your presidency?
I think we are living in exciting times for haemophilia and other inherited bleeding disorders. A number of new molecules have entered the therapeutic field of haemophilia, and now we have to understand how to use them. Non-factor treatment, subcutaneous treatment, gene therapy: these drugs have different mechanisms of action, a different impact on haemostasis, and a different treatment burden, and therefore the treatment decisions are becoming increasingly complex. There are still unknowns regarding the efficacy and toxicity of these new treatment options, and we need to collect more data from patients treated outside of clinical trials. EAHAD has an important role in collecting these data. The
European Haemophilia Surveillance System (EUHASS) is monitoring the safety of treatments for people with inherited bleeding disorders in Europe.
The treatment for haemophilia is personalised. There are number of treatment options, and we need to learn how to use new drugs, and find the best option for every patient based on the disease type, bleeding phenotype, comorbidities, and lifestyle.
EAHAD has an important role in dissemination of knowledge, education, research, and collection of safety data on current treatments. Another important role of EAHAD is to increase awareness and support the research in other bleeding disorders. Usually, when addressing inherited bleeding disorders, the focus is on haemophilia. Even the name of the centres for inherited bleeding disorders is haemophilia centres. The patients with other inherited bleeding disorders were not so much in focus for a while, and research in the area was sparse. It can be challenging to do research in rare diseases and, moreover, rare bleeding disorders are often underdiagnosed.
I believe that we need to raise awareness about rare inherited bleeding disorders among physicians and the general population, to enhance timely diagnosis and start adequate treatment, in order to prevent complications.
Q4Looking back at this year’s EAHAD Congress, what sessions or highlights stood out to you as particularly impactful?
I believe we had a great Congress this year. We had an interesting programme, and we tackled different aspects of inherited bleeding disorders.
As I mentioned earlier, we are also trying to address the rare and extremely rare bleeding disorders. We had an interesting presentation from the working group on Glanzmann thrombasthenia. Glanzmann’s National History Study (GNHS) was presented, with the aim of understanding the diversity in the clinical presentation of the disease. Then we focused on the women and girls with bleeding disorders, including Glanzmann’s and VWD, and the management of pregnancy.
We then introduced a bit of basic sciences, with an interesting presentation on the molecular mechanism of angiodysplasia, a complication of VWD. VGA039, a new targeting molecule for VWD, was presented, and demonstrated possibility of prophylaxis of bleeds in patients with VWD through a subcutaneous drug, which is an unmet need in this group of patients. We often compare treatment possibilities in haemophilia and VWD, and at the moment, haemophilia research
has progressed much further than VWD.
In the field of haemophilia, we heard interesting data from the PedNet group about the occurrence of inhibitors in previously untreated patients. To follow up on gene therapy, we had a discussion on side effects, dominantly liver health, and a demonstration of the 5-year results of the HOPE trial. Moreover, 9-year follow-up results from one of the first gene therapies for haemophilia
The Haemophilia Landscape in Europe
Q5
From your perspective, how would you describe the current landscape of haemophilia and rare bleeding disorders in Europe today?
The treatment landscape has evolved significantly during the last couple of years. New molecules have improved the outcome of prophylaxis, not only by reducing the number of bleeds, but also by allowing patients more freedom and increased physical activities without increasing the risk of bleeding. Therefore, the aim of treatment is not only zero bleeds in patients who are sedentary, but also for those who are physically active, especially the young people who are starting prophylaxis at an early age. Moreover, the new treatment
has significantly alleviated the treatment burden, as the drugs are administrated subcutaneously or intravenously once weekly. This is even more true with gene therapy.
Gene therapy can achieve stable levels of Factor VIII or Factor IX after a single intravenous injection. The majority of patients treated with gene therapy have been free from regular prophylaxis. Results are a bit more favourable in the treatment of haemophilia B; it seems that Factor IX is much more easily incorporated in the liver, and the patients can achieve long-term stable levels of the factor.
Regarding other diseases, for example VWD, there has been a lot of discussion on how to increase awareness of the disease, to achieve timely diagnosis, as a large number of patients are still unrecognised and undiagnosed. The current treatment possibilities include supportive treatment and concentrates of VWF; however, the prophylactic treatment has not been established as in haemophilia. More studies and clinical experiences are needed in this area. We hope that the future treatment of VWD will include molecules that can be applied subcutaneously and, maybe in the future, gene therapy, although it is a bit more complicated than the gene therapy for haemophilia.
On the other hand, we are still missing specific treatment for a number of rare and extremely rare coagulation disorders. For the majority of these patients, we can manage bleeding in surgery or trauma; however, the treatments are not convenient for standard prophylaxis. Several molecules are in research for treatment of rare bleeding disorders, like Glanzmann thrombasthenia, and we hope that we will have these molecules in clinical practice soon.
Q6 Which recent scientific or therapeutic advances do
you believe are most influencing clinical care?
I think that the possibility of subcutaneous treatment with good efficacy but reduced treatment burden is something that changed the haemophilia treatment landscape. Also, modified recombinant FVIII and FIX that require less injections, but offer better protection from bleeds have allowed the patients more freedom and increased quality of life. With the new options for prophylaxis, which are efficacious but with less rigid treatment burden, we need to redefine the outcome measures. Annual bleeding rate of zero is commonly achieved, and we need to find new, more precise outcomes and measures of the efficacy of the treatment. Now, we are focusing on more subtle changes, like micro bleeds, minimal joint damage evaluated by ultrasound and MRI, quality of life, and liver health (that has been introduced and pushed a little bit more due to gene therapy).
Following that, coming back to the accreditation programme for haemophilia centres, I believe that these changes also have an implication for the organisation of the haemophilia centres, and that the centres have to adapt to new needs and even introduce new members to the multidisciplinary teams.
Q7 Where do you see the greatest unmet needs for patients and healthcare professionals, and how can EAHAD address these during your term?
Despite significant progress in treatment possibilities for patients with inherited bleeding disorders, there are still unmet needs. For one, there are patients with haemophilia who don't have
adequate prophylaxis. There are patients with haemophilia B and inhibitors, who didn't have prophylaxis until recently. Now, a new drug has been approved by the EMA for the treatment of patients with haemophilia B and inhibitors, but it is still not available in all European countries.
Also, as I mentioned before, a number of patients with inherited bleeding disorders other than haemophilia have no available prophylaxis, or no possibility for convenient long-term prophylaxis.
The patients with haemophilia who were born before the start of the regular prophylaxis of haemophilia suffered numerous joint bleeds, and have developed chronic arthropathy, disability, and chronic pain. These are the issues that we have to address and follow up in the future.
Innovation and the Future of Care
Q8 How can young clinicians and researchers be best supported to contribute to this evolving field?
EAHAD recognises the need for supporting young scientists and clinicians and attracting them to the field of bleeding disorders. This is not easy, as young physicians have so many possibilities in so many different aspects of medicine. We believe they are not only the future, but the present of the Society. They are coming from the universities open minded, full of knowledge and enthusiasm, and have a lots of ideas on how to enhance the diagnosis, treatment, and management of bleeding disorders.
EAHAD offers several opportunities for young physicians: travel grants, to be able to travel to another country and spend some time in other centres; and research
grants, which every year become more and more competitive. From this year, we have a new session during our Congress that is dedicated to investigators in scientific research, and it was established with the aim of allowing young scientists to present their work. We are also inviting young scientists to come and present their work as a poster presentation. This year, we had the largest number of poster presentations. Each year, the best posters are rewarded. I believe it is important to show the young people that we care about their work, and to encourage them to persevere in their research.
Q9 Looking beyond 2028, what long-term achievements would you like EAHAD and the broader haemophilia community to have realised in the next 5–10 years?
It's not easy to answer this question, but, with the speed of progress that we are currently seeing in the management of haemophilia, I think that in 10 years we can achieve perfect prophylaxis, so that all patients with the severe disease/severe bleeding phenotype will
have prophylaxis that is highly efficacious, but without any side effects and without high treatment burden. Gene therapy is starting to develop really quickly. There are a number of different gene therapy studies currently underway, Phase II and Phase III, on gene editing and new vectors. I believe that in 10 years, gene therapy will be present in clinical practice in Europe. New molecules that are mimicking FVIII activity are in development, also in a form of tablet for oral treatment.
You asked me, ‘What's the role of EAHAD here?’. I think that EAHAD, as a global haemophilia conference, has an important role in leading this development, to support research and, more importantly, disseminate knowledge and education; start discussions, interactions, and the exchange of ideas between physicians; and not just demonstrate results, but stimulate dialog between different stakeholders involved in managing patients with bleeding disorders.
Q10Finally, a question we like to ask all our guests: if you had three magic wishes for the field of haemophilia and allied disorders, what would they be?
First, I would say that we need timely diagnosis for all patients with inherited bleeding disorders. Second, post-diagnosis, before severe bleeding happens, we need to introduce a drug that has good efficacy, with low treatment burden and no side effects. Third, I wish that this would be possible for all patients, not just in Europe, but for all those around the world. In Europe, we are discussing annual bleeding rates of zero/ one, or one/two injections a week, but unfortunately, the vast majority of the world does not have any treatment at all.
EAHAD has an important role in dissemination of knowledge, education, research, and collection of safety data on current treatments
The first case of VWD was described and published in 1926 by Erik von Willebrand. Therefore, 2026 marks its centenary anniversary.
Introduction to von Willebrand Disease
VWD is the most common inherited bleeding disorder worldwide. It is caused by a mutation on the VWF gene on chromosome 12 (12p13).1
This infographic explores the history of the diagnosis and management of the disease.
History of von Willebrand Disease
First Description
In 1926, Erik von Willebrand published his first paper on a bleeding disease he had observed in a 5-year-old girl and her family, from Föglö, a municipality of the Åland Islands in the Gulf of Bothnia.6
The girl was admitted to the Deaconess Hospital in Helsinki, Finland, in April 1924, for a severe haemorrhaging and the condition was first described as ‘hereditary pseudohaemophilia’.
Identification of the Plasma Protein Defect
Swedish researchers, including Inga Marie Nilsson and Margareta Blombäck, demonstrated that a plasma fraction corrected bleeding in VWD, identifying the factor later termed VWF.7
Naming of the Disorder
It was originally called von Willebrand-Jürgens thrombopathy as the defect was initially thought to be a platelet function disorder.6
References:
1. Hernández-Zamora E et al. Cirugía y Cirujanos. 2015;83(3):255-64.
2. Leebeek FWG, Eikenboom JCJ. N Engl J Med. 2016;375(21):2067-8.
3. Seidizadeh O et al. Nature Reviews Disease Primers. 2024;10(1):51.
4. James PD, Goodeve AC. Genetics in Medicine. 2011;13:365-76.
7. Nilsson IM et al. Acta Med Scand. 1957;159(3):179-88.
8. Zimmerman TS et al. J Clin Invest. 1971;50(1):244-54.
There are three main types: Type 3 is the most <5%, it is the rarest by a total deficiency
von Willebrand Factor
Zimmerman et al.8 characterised factor VIIIrelated antigen deficiency in VWD, distinguishing it immunologically from haemophilia A.8,9
Type 1 is the most and appears in around Patients produce to mild bleeding symptoms. Type 2 has a stronger phenotype and affects of patients. The cause in the VWF protein. VWF defect, Type four subtypes (2A,
Factor VIII Separated von Willebrand Harvey J. Weiss colleagues demonstrated that ristocetin-induced platelet aggregation defective in some of VWD.10
Abbreviations: Cas 9: CRISPR-associated protein 9; siRNA: small interfering RNA; VWD: Von Willebrand disease; VWF: Von Willebrand factor.
9. Haemnet. Landmarks in haemophilia care. Available at: https://www.haemnet.com/haemophilia-timeline/. Last accessed: 13 February 2026.
10. Bowman M, James P. Blood Adv. 2025;9(22):5870-9.
11. Mannucci PM et al. Lancet. 1977 Apr 23;1(8017):869-72.
12. Wagner et al, J Cell Biol. 1982;95(1):355-60
13. Ginsburg D et al. Science. 1985;228(4706):1401-6.
14. Verweij CL et al. Nucleic Acids Res. 1985;13(13):4699-717.
15. Lynch DC et al. Cell. 1985;41(1):49-56.
16. Sadler JE et al. Cold Spring Harb Symp Quant 1:515-23.
17. Mannucci PM et al. Blood. 2013;122(5):648-57.
18. Kaufmann JE, Vischer UM. J Thromb Haemost.
19. Barraclough A et al. Front Genome Ed. 2025;7:1620438.
types:
most common type of VWD around 70–80% of cases. less VWF, which leads symptoms.1 stronger bleeding affects around 15–20% cause here are defects protein. Based on the type of Type 2 is further divided into (2A, 2B, 2M, and 2N).1-3
most severe form, but, at rarest and is characterised deficiency of VWF protein.1
Types 1 and 2 are autosomal dominant (approximately 50% risk if one parent is affected), while Type 3 is autosomal recessive; however, the alleles show variable penetrance and expressivity, so some individuals with quantitative alleles have normal levels and no bleeding.4
Separated from Willebrand Factor
Weiss and demonstrated ristocetin-induced aggregation was some types
von Willebrand Factor in Weibel-Palade Bodies
VWF was identified as the main cargo of Weibel-Palade bodies in endothelial cells by Denisa Wagner. This compartment provides the stored pool of VWF that is released in circulation upon desmopressin treatment.12
Desmopressin is Developed
Desmopressin was shown to raise factor VIII and reduce bleeding in mild haemophilia and VWD.11 Reviewers have flagged more advances have occured since 1977.
Symptoms can include frequent nosebleeds, bleeding gums, heavy periods, prolonged bleeding after minor injuries, and bruising easily amongst others.5
First in Human Clinical Trial
First in human clinical trial of recombinant VWF in patients with Type 3 VWD.17
2013;122(5):648-57.
Haemost. 2003;1(4):682-9. 2025;7:1620438.
Where Are We Today?
Desmopressin is commonly used in treatment. It is an analogue of vasopressin that stimulates the release of endogenous factor VIII and VWF protein 18
Cloning of the VWF Gene VWF gene was cloned by four separate Dutch and American teams, which enabled genetic investigations into VWD and production of recombinant VWF therapeutics.13-16
Research is exploring siRNA therapies and CRISPR/ Cas9-based gene editing, with a focus on personalised treatments tailored to each patient’s genetic profile, inspired by advances in gene therapy for haemophilia A and B.19
Hematology Articles
Article:
Gene Therapy: Living With(out) Haemophilia?
Explore the transformative potential of gene therapy and how it could redefine life for people living with haemophilia.
Read expert insights into the benefits, challenges, and future possibilities of gene therapy in haemophilia care.
Read the full article here
Article:
100 Years of von Willebrand Disease
Explore a century of progress in understanding von Willebrand disease, the most common inherited bleeding disorder.
Discover key milestones that continue to shape the future of patient care and research.
Read the full article here
Article: Vitamin
K-Dependent Bleeding Linked to Topiramate
This case report highlights a rare instance of vitamin K-dependent clotting factor deficiency linked to topiramate use.
Understand the importance of recognising medication-related causes in patients presenting with unusual bleeding symptoms.
Read the full article here
EMJ - Elevating the Quality of Healthcare Globally
