Haemophilia最新文献

{"title":"Lipoprotein(a) in People With Haemophilia: A Forgotten Biomarker in a Population whose Haemostasis We Are Normalising.","authors":"Manuel Rodriguez Lopez, María Teresa Alvarez Román, Michael Calviño Suarez, Ramiro José Nuñez Vázquez, Carmen Albo López","doi":"10.1111/hae.70415","DOIUrl":"https://doi.org/10.1111/hae.70415","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acquired von Willebrand Syndrome Associated With Wilms Tumour.","authors":"Takamasa Mizumoto, Tomohei Nakao, Yuuki Shimizu, Atsuhiko Ota, Ryuhei Tanaka, Takumi Gohara, Yujiro Tanaka, Kazuko Obana, Takashi Fukushima","doi":"10.1111/hae.70414","DOIUrl":"https://doi.org/10.1111/hae.70414","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148989860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Seventh Åland Island Meeting on von Willebrand Disease","authors":"Riitta Lassila,&nbsp;Ruben Bierings,&nbsp;Nathan T. Connell,&nbsp;Fernando F. Corrales-Medina,&nbsp;Augusto B. Federici,&nbsp;Veronica H. Flood,&nbsp;Floor Heubel-Moenen,&nbsp;Jill M. Johnsen,&nbsp;Geoffrey Kuppens,&nbsp;Davide Matino,&nbsp;Carolyn Millar,&nbsp;Ingmar Schoen,&nbsp;Anish Sharda,&nbsp;Robert F. Sidonio Jr,&nbsp;Alok Srivastava,&nbsp;Timea Szanto,&nbsp;Angela C. Weyand,&nbsp;Erik Berntorp","doi":"10.1111/hae.70302","DOIUrl":"10.1111/hae.70302","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The seventh Åland Island Meeting on von Willebrand Disease (VWD) was held on the Åland archipelago in Finland, from 26 to 28 September 2024.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>The meeting brought together experts in the field of VWD from around the world to share the latest advances and knowledge in VWD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results and Discussion</h3>\u0000 \u0000 <p>The topics covered both clinical aspects of management and biochemical and laboratory insights into the disease. The clinical topics discussed included epidemiology of VWD, the diagnostic landscape and treatment strategies. Special attention was paid to the challenges of VWD in women and to the definition of disease severity, both key areas of ongoing clinical debate. Emerging research in bleeding disorders was also highlighted. Much has been achieved in the diagnosis and treatment of VWD, and the outlook is positive for people with VWD, who can expect continued improvements in their care in the coming years. To ensure optimal translation of increased understanding to improved care of people with VWD, a multidisciplinary approach with biochemists, geneticists and cell biologists partnering with clinicians and industry is needed.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"32 S3","pages":"S3-S25"},"PeriodicalIF":3.0,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.70302","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147928578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DDAVP Challenges in 170 Children With von Willebrand Disease: Response Classification Varies According to Criteria Used.","authors":"Michael Shu, Caroline Malcolmson, Amanda Fregonas, Tristan E Knight, Margaret L Rand, Cindy Wakefield, Vanessa Bouskill, Manuel Carcao","doi":"10.1111/hae.70389","DOIUrl":"https://doi.org/10.1111/hae.70389","url":null,"abstract":"<p><strong>Introduction: </strong>Individuals diagnosed with types 1/1C/2A/2M von Willebrand disease (VWD) typically undergo a desmopressin (DDAVP) challenge to assess therapeutic benefit. This involves measuring von Willebrand factor antigen (VWF:Ag), activity (VWF:Act; VWF:RCo/VWF:GPIbM/VWF:Ab), and coagulant factor VIII (FVIII:C) levels 0 (pre), 1, and 4-h post-DDAVP administration. Diverse systems exist to classify DDAVP response (complete (CR), partial (PR), and non-responders (NR)). These have not been compared in a paediatric population.</p><p><strong>Aim: </strong>To compare DDAVP response classification systems in children with VWD and to explore predictors of DDAVP response: VWD subtype, age, blood group, and baseline VWF:Act.</p><p><strong>Methods: </strong>In this retrospective single-centre study, subjects were included if they had type 1/1C/2A/2M VWD and underwent a DDAVP challenge. DDAVP response was classified according to two recent classification systems: Castaman (2020) and Connell et al. (2021).</p><p><strong>Results: </strong>170 subjects were included (124, 12, 13, and 21 with types 1/1C/2A/2M VWD, respectively; 84 male, 86 female). Median age at DDAVP challenge was 7.1 years [IQR 4.8-10.8]. CR rate varied from 59% (Connell et al.) to 81% (Castaman). Those with type 1 had higher rates of CR compared to types 1C/2A/2M VWD. Age and blood group did not predict DDAVP response. 90%-98% of those with baseline VWF:Act ≥0.30 had a CR.</p><p><strong>Conclusion: </strong>Inconsistent DDAVP response criteria between classification systems may lead to inconsistent use of DDAVP. As the Castaman system does not require a >2-fold increase in VWF:Act, it may be more realistic in children who may already have a stress-induced increase in levels at time 0-h of the challenge.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment Adherence in Haemophilia: Methods of Assessment, Clinical Outcomes, and Real-World Evidence.","authors":"Fiorenzo Santoleri, Romina Giannini, Ruggero Lasala, Alessia Romagnoli, Paolo Abrate, Andrealuna Ucciero, Cosimo De Giorgio, Tiziano Lupi, Myriam Brachet Cota, Domenico Angelo Tarantino, Annalisa Clemente, Pierpaolo Toto, Valentina Isgrò, Alice Primomo, Alberto Costantini","doi":"10.1111/hae.70410","DOIUrl":"https://doi.org/10.1111/hae.70410","url":null,"abstract":"<p><strong>Background: </strong>Treatment adherence is widely regarded as a key determinant of therapeutic effectiveness in haemophilia; however, both its assessment and its clinical relevance remain highly variable across studies.</p><p><strong>Aim: </strong>This review aims to provide an overview of adherence to haemophilia treatments, focusing on assessment methodologies, reported adherence levels, and their relationship with clinical outcomes in real-world settings.</p><p><strong>Methods: </strong>Evidence derived from surveys, validated adherence scales, dispensing-based metrics, and patient-reported data was examined. Clinical outcomes assessed included bleeding events, joint health, pain, and quality of life.</p><p><strong>Results: </strong>Overall, adherence was generally reported as high, particularly among patients receiving prophylactic therapy. Nevertheless, substantial heterogeneity was observed in adherence definitions, measurement approaches, and outcome selection, limiting comparability across studies and complicating the interpretation of adherence-outcome relationships.</p><p><strong>Conclusions: </strong>While adherence is traditionally considered a prerequisite for treatment effectiveness, establishing a consistent and clinically meaningful association with outcomes remains challenging. Greater methodological standardization is needed to enhance the interpretability of real-world evidence and to better inform clinical and therapeutic decision-making in haemophilia.</p><p><strong>Summary: </strong>Adherence to haemophilia treatment is assessed using heterogeneous methods Reported adherence levels are generally high across prophylactic regimens Associations between adherence and clinical outcomes are inconsistent Methodological standardization is needed to strengthen real-world evidence.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of Annual Global Survey Reports for Haemophilia B in the Eastern Mediterranean Region: Disparities in Trends for A decade (2014-2023).","authors":"Abdulrahman Algarni, Badi A Alotaibi, Ezeldine K Abdalhabib","doi":"10.1111/hae.70377","DOIUrl":"https://doi.org/10.1111/hae.70377","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilia B (HB) is a single-gene bleeding disorder caused by deficiency of coagulation factor IX. This study aimed to estimate the trends in the observed prevalence and the treatment patterns of HB in the East Mediterranean Region (EMR) countries over a decade (2014 to 2023) and across income groups.</p><p><strong>Methods: </strong>Data were extracted from World Federation of Haemophilia Annual Global Survey reports for EMR countries that reported data on Persons with Haemophilia B (PWHB) for at least five years during the decade. Trends in the observed prevalence, percent of observed-to-expected cases, severity, percent of children, and factor IX usage were estimated over the decade and compared across income groups. Data from 14 countries were analyzed.</p><p><strong>Results: </strong>The country-specific observed prevalence of PWHB ranged between 0.3 to 2.6 per 100,000 males, while the mean observed prevalence of PWHB significantly increased from 1.18 to 1.73 per 100,000 males during the decade (p = 0.003). The observed prevalence significantly varied by income groups also (p = 0.002). A significant gap between the identified and expected PWHB cases remained throughout the decade. Almost half of the individuals reported severe PWHB and a similar proportion were children, which varied across the countries. The mean proportion of children with PWHB changed from 61% in 2014% to 51% in 2023, although not significant. Mean per capita factor IX utilization increased during the decade, however was low (0.29; SD 0.18), below the recommended level of 0.5.</p><p><strong>Conclusion: </strong>Although observed prevalence of PWHB increased over the decade, substantial gaps persist in diagnosis and treatment across the income groups. The substantial proportion of paediatric cases suggests the importance of paediatric Haemophilia services. Low treatment utilization and disparities across income groups highlight the need for strengthened surveillance systems, improved awareness, and expanded access to care across the EMR region.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment With Etranacogene Dezaparvovec in a Renal Transplant Recipient With Hemophilia B on Concomitant Systemic Immunosuppressive Therapy.","authors":"Laura S Ortega Flores, Erin C Duffield, Megan F Duperreault, Shawn Newton, George M Rodgers, Ming Y Lim","doi":"10.1111/hae.70409","DOIUrl":"https://doi.org/10.1111/hae.70409","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sensory and Clinical Characterization of Acute and Chronic Pain in Hemophilia: Identification of Distinct Pain Phenotypes.","authors":"Zühal Demirci, Amine Terzi, Yasemin Yildirim, Güray Saydam, Fahri Şahin","doi":"10.1111/hae.70393","DOIUrl":"https://doi.org/10.1111/hae.70393","url":null,"abstract":"<p><strong>Background: </strong>Pain is a major clinical problem in hemophilia, traditionally assessed in terms of intensity and frequency. However, the sensory characteristics of pain and patient-perceived differences between acute and chronic pain remain insufficiently explored. This study aimed to systematically characterize the sensory and clinical features of acute and chronic pain in people with hemophilia and to determine whether clinically meaningful differences exist between these pain types.</p><p><strong>Methods: </strong>In this cross-sectional study, people with hemophilia followed at a comprehensive care center were evaluated using the Pain Quality Assessment Scale (PQAS) and the Brief Pain Inventory (BPI). K-means cluster analysis was applied to PQAS scores to identify pain phenotypes, with cluster numbers determined using hierarchical analysis and dendrogram inspection.</p><p><strong>Results: </strong>Acute pain demonstrated higher intensity and a more multidimensional sensory profile compared with chronic pain. Descriptors such as \"dull,\" \"deep,\" \"intense,\" and \"hot\" were more prominent in acute episodes. Chronic pain showed lower intensity but a persistent pattern associated with stiffness after periods of inactivity and prolonged standing. Three distinct clusters were identified for acute pain and two for chronic pain, supporting heterogeneous pain phenotypes. A substantial proportion of patients reported pain in multiple joints, suggesting the possible coexistence of nociceptive and sensitization-related mechanisms.</p><p><strong>Conclusion: </strong>Acute and chronic pain in hemophilia represent distinct sensory and clinical entities. Beyond differences in duration, these findings suggest differing underlying mechanisms and highlight the importance of accurate pain differentiation to guide individualized and interdisciplinary pain management strategies.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148967923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Living With Factor VII Deficiency-A Mixed Methods Study.","authors":"Simon Fletcher, Matthew Boyton, Sam Bristow, Kate Khair","doi":"10.1111/hae.70404","DOIUrl":"10.1111/hae.70404","url":null,"abstract":"<p><strong>Background: </strong>Factor VII deficiency (FVIID) is a rare autosomal recessive disorder, resulting in potentially unpredictable and life-threatening bleeding. The prevalence of symptomatic patients is 1 in 300,000. Treatment is mostly given following bleeding, but those with the lowest levels may be offered prophylaxis.</p><p><strong>Objectives: </strong>We aimed to explore the real-life impact of FVIID on individuals and their families, focusing on psychosocial wellbeing and quality of life (QoL).</p><p><strong>Methods: </strong>The study used a quantitative survey, including validated QoL tools, and qualitative one-to-one interviews to enable deeper exploration of the quantitative findings.</p><p><strong>Results: </strong>One hundred people with FVIID (74 adults; 26 caregivers of children) completed the survey; 24 (18 adults; 6 caregivers) were interviewed. A significant gender-based disparity was observed: males were diagnosed at a median age of 4 years, versus 17 years in females (p < 0.001). 56% of respondents reported a mean of 1.25 bleeds per week; significantly higher in women than men (mean 1.65 vs. 0.53/week, respectively; p < 0.01). QoL scores decreased with increased bleeding measured by the self-BAT (p < 0.001). Bleeding was associated with significant social impact: missed physical activity (64%), avoidance of social engagements (53%) and lost education (50%). Interviews yielded six core themes associated with unmet need.</p><p><strong>Conclusion: </strong>FVIID causes significant challenges, disproportionately borne by women and compounded by gaps in management, especially treatment. Current treatments are burdensome and fail to prevent breakthrough bleeds. People with FVIID have unmet needs that require therapeutic innovation, improved diagnosis and management strategies, and data collection to improve their QoL and outcomes.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient Preferences for the Treatment of Haemophilia A and B in France.","authors":"Yesim Dargaud, Yasmine Fahfouhi, Monia Ezzalfani, Astrid Foix Colonier, Alaeddine Sidhom, Aline Gauthier, Jérémie Rudant, Meriem Kessouri, Nicolas Giraud, Benoît Guillet, Anaïs Reynaud","doi":"10.1111/hae.70298","DOIUrl":"https://doi.org/10.1111/hae.70298","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilia impacts health and quality of life. Advances in treatments such as factor replacement therapy (FRT), bispecific monoclonal antibody (BS-mAb), gene therapy (GT), rebalancing treatment and high sustained factor necessitate understanding patient preferences to inform therapeutic strategies.</p><p><strong>Aim: </strong>This study quantified trade-offs of French adult patients with moderate-to-severe haemophilia A/B when choosing between two treatments.</p><p><strong>Methods: </strong>A non-interventional, web-based survey using the threshold technique was conducted. Six treatment attributes were identified through systematic review, semi-structured patient interviews and clinical expert consultations: administration frequency, number of annual bleeds, duration of prophylaxis discontinuation, duration of long-term safety data, joint pain after 6 months and preparation/administration requirements. Thresholds were interpreted under fixed attributes assumptions.</p><p><strong>Results: </strong>Of the 95 recruited patients, 86 were eligible for analysis. Most participants were male (97%), aged 41 on average; 88% had haemophilia A, 87% severe cases. On average, patients accepted 1.1 (median: 0) annual bleeds to switch from BS-mAb-like to high sustained factor-like profiles, 1.5 (median: 0.5) to switch from BS-mAb-like to rebalancing treatment-like profiles and 3.3 to switch from FRT-like to rebalancing treatment-like profiles, holding all else constant. To switch from FRT-like to GT-like profile, patients were willing to accept 4.8 annual bleeds or 12.5 years of prophylaxis discontinuation (median: 1). Patients required lower annual bleeds and longer prophylaxis discontinuation when switching from BS-mAb-like to GT-like profile (3.5 annual bleeds or 14.3 years of prophylaxis discontinuation [median: 2]).</p><p><strong>Conclusions: </strong>Treatment preferences among French patients with haemophilia are highly individualized, reflecting nuanced trade-offs between bleeding risk, treatment convenience and long-term safety that vary according to current therapeutic strategies and individual patient priorities. These findings underscore the importance of shared, personalized decision-making in contemporary haemophilia care.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}