Haemophilia最新文献

{"title":"Healthcare Professional Identified Priorities for a New Musculoskeletal Examination Scoring System for People With Hemophilia-an International Consensus.","authors":"Lizabeth Teshler, Audrey Abad, Magnus Aspdahl, Laura Avila, Melanie Bladen, Sharon Funk, Pamela Hilliard, Judy Ann John, Marilyn Manco-Johnson, Janjaap van der Net, David Stephensen, Jean St-Louis, Merel Timmer, Beth Boulden Warren, F Virginia Wright, Nichan Zourikian, Brian M Feldman","doi":"10.1111/hae.70368","DOIUrl":"https://doi.org/10.1111/hae.70368","url":null,"abstract":"<p><strong>Introduction: </strong>The accurate physical examination of musculoskeletal (MSK) health is an essential part of proactive best practice care of people with hemophilia and must be consistently monitored in clinic. In response to current MSK tool limitations, the Musculoskeletal Health Expert Working Group (MSKH EWG) of the International Prophylaxis Study Group (IPSG) has identified developing an improved MSK scoring system a priority.</p><p><strong>Aim: </strong>To identify the priority needs for healthcare professionals examining the MSK health of people with hemophilia in clinic.</p><p><strong>Methods: </strong>Priorities were identified through a modified Delphi consensus process and an expert meeting with the members of the MSKH EWG. Three iterative surveys were distributed worldwide to healthcare professionals who were participants of the World Federation of Haemophilia (WFH) MSK Committee meetings.</p><p><strong>Results: </strong>The modified Delphi process identified priorities of these healthcare professionals (n = 78) through surveys and an expert meeting (n = 13). The three surveys achieved response rates of 58%, 54% and 55%. The top two priorities, as to why a new MSK scoring system should be developed, were 1) current tools cannot detect the earliest and subtle changes of hemophilia, and 2) current tools are too time consuming. The top two attributes and purposes of a new MSK scoring system were to 1) measure the earliest changes of hemophilia, and 2) measure joint health changes over the course of time.</p><p><strong>Conclusion: </strong>The Delphi process successfully identified which future MSK examination priorities should be considered in the development of an improved MSK scoring system for clinical use.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840128","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":"Changes in Hypertrophic Synovium Status in Adult Patients With Severe Hemophilia A Receiving Emicizumab Prophylaxis: The RESOLVE Study.","authors":"Matteo Nicola Dario Di Minno, Erminia Baldacci, Ilenia Lorenza Calcaterra, Guido D'Errico, Cristina Santoro, Alessandra Strangio, Silvia Sorella, Marzia Leotta, Rita Carlotta Santoro","doi":"10.1111/hae.70396","DOIUrl":"https://doi.org/10.1111/hae.70396","url":null,"abstract":"<p><strong>Background: </strong>Evidence on the impact of emicizumab on joint health, particularly hypertrophic synovium (HS), remains limited.</p><p><strong>Objectives: </strong>To evaluate changes in HS, using point-of-care ultrasound and clinical examination in People with Haemophilia (PwH) switching from replacement therapy to emicizumab.</p><p><strong>Methods: </strong>The RESOLVE study is a retrospective observational, multicenter cohort study including adults with severe hemophilia A (FVIII<1%), with and without anti-FVIII inhibitors, who started a treatment with emicizumab and were followed for at least 2 years. Clinical data, annualized bleeding rates (ABR,AjBR), HJHS, and HEAD-US assessments were collected during replacement therapy and after ≥2-year emicizumab. HS was graded according to the HEAD-US protocol. Changes in HS represented the primary outcome.</p><p><strong>Results: </strong>Fifty-two PwH (mean±SDage: 37.9±12.1years) were enrolled, with data on 298 joints. Emicizumab prophylaxis resulted in a significant reduction in ABR and AjBR compared with replacement therapy, with an increase in participants achieving ABR zero and AjBRzero. At baseline, HS was present in 22.5% of joints. After ≥2-year-emicizumab, HS was improved/resolved in 53.7% of affected joints, while it persisted in 38.8% and worsened in 7.5% of joints. New-onset HS was developed in 6.1% of previously unaffected joints. Baseline structural joint damage was strongly associated with the presence and persistence of HS.</p><p><strong>Conclusions: </strong>In this real-world setting, emicizumab provides bleeding protection and is associated with reduction/resolution of HS in more than 50% of affected joints. In case of persistent HS, a tailored approach to joint health management may be needed to fully prevent or reverse HS.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840163","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":"Effects of Manual Therapy and Structured Exercises on Postural Balance and Walking Capacity in Adults With Haemophilia.","authors":"Ayşe Merve Tat, Necati Muhammed Tat, Pervin Yeşiloğlu Kılıçlar, Ali Doğan","doi":"10.1111/hae.70379","DOIUrl":"https://doi.org/10.1111/hae.70379","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilic arthropathy (HA) impairs joint health, walking capacity, and postural balance in adults with haemophilia (AwH). Evidence regarding the combined effects of manual therapy and structured exercise on postural balance remains limited.</p><p><strong>Aim: </strong>To investigate the effects of manual therapy combined with structured exercise on joint health, activity-related pain, walking capacity, and static and dynamic balance in AwH.</p><p><strong>Methods: </strong>This randomized controlled trial included 35 AwH (control group [CG], n = 17; physiotherapy group [PG], n = 18). The PG received manual therapy and supervised exercise twice weekly for six weeks, whereas the CG received routine care. Outcomes included the Hemophilia Joint Health Score (HJHS), Numeric Pain Scale (NPS), 6-Minute Walking Test (6MWT), and postural balance assessed using static stability and Limits of Stability (LoS) tests. Analyses were performed according to both intention-to-treat (ITT) and per-protocol (PP) principles.</p><p><strong>Results: </strong>Groups were comparable at baseline (all p > 0.05). Following the intervention, the PG showed significant improvements in HJHS, NPS, 6MWT, and LoS (all p < 0.001), whereas no significant changes were observed in the CG. Repeated-measures ANOVA showed significantly greater improvements over time in the PG than in the CG for HJHS, NPS, 6MWT, and LoS, whereas static balance remained unchanged.</p><p><strong>Conclusion: </strong>Manual therapy combined with structured progressive exercise improves joint health, activity-related pain, walking capacity, and dynamic balance in AwH. These findings support the use of combined manual therapy and exercise as part of physiotherapy management for HA.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148827567","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":"Five-Year Longitudinal Changes in Treatment Strategies and Clinical Outcomes in Adults With Haemophilia: The ADVANCE Japan Cohort Study.","authors":"Azusa Nagao, Akihiro Sawada, Takeshi Kanematsu, Naoya Yamasaki, Hideyuki Takedani, Masanori Nojima, Yukio Hiroi, Teruhisa Fujii, Nobuaki Suzuki, Tadashi Matsushita, Satoshi Higasa, Kagehiro Amano, Yushi Chikasawa","doi":"10.1111/hae.70370","DOIUrl":"https://doi.org/10.1111/hae.70370","url":null,"abstract":"<p><strong>Background: </strong>Prophylactic treatment for haemophilia has evolved with the introduction of extended half-life (EHL) and nonfactor products. However, long-term real-world data describing how these advances have affected adults with haemophilia remain limited.</p><p><strong>Objectives: </strong>To evaluate 5-year changes in treatment strategies and clinical outcomes in adults aged ≥40 years with haemophilia.</p><p><strong>Methods: </strong>We analyzed 5-year longitudinal data from ADVANCE Japan, a nationwide prospective registry of adults aged ≥40 years with haemophilia.</p><p><strong>Results: </strong>Of approximately 600 registered participants, 568 inhibitor-negative individuals were included in this analysis. The median follow-up duration was 4.99 years (Q1-Q3, 4.89-5.92). In haemophilia A, treatment strategies shifted towards EHL and nonfactor therapies over time. Among participants with severe haemophilia A receiving prophylaxis, median injection frequency decreased from 2.0 to 1.0 injection per week over 5 years (p < 0.001). In contrast, among participants with severe haemophilia B, injection frequency remained unchanged (p = 0.563). Despite these therapeutic transitions, annualized bleeding rate (ABR) and annualized joint bleeding rate (AjBR) showed no significant longitudinal changes across age groups in either haemophilia A or B. The proportion of participants with at least one target joint decreased from 88/568 (15.5%) at baseline to 72/548 (13.1%) in 2024.</p><p><strong>Conclusions: </strong>Over 5 years, treatment strategies in adults with haemophilia A shifted towards EHL and nonfactor therapies, with reduced injection frequency among severe haemophilia A receiving prophylaxis. Bleeding rates remained stable and target joints modestly decreased, suggesting that bleeding outcomes alone may not fully reflect the evolving clinical burden in aging adults with haemophilia.</p><p><strong>Trial registration: </strong>This study is registered in the Japan Registry of Clinical Trials (JRCT; https://jrct.mhlw.go.jp/latest-detail/jRCT1030190046).</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148827637","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":"From Bleeding Control to Health: Implementing Multidimensional and Multidisciplinary Hemophilia Care Into the Era of Therapeutic Innovation.","authors":"Nicolas Giraud, Yesim Dargaud","doi":"10.1111/hae.70376","DOIUrl":"https://doi.org/10.1111/hae.70376","url":null,"abstract":"<p><strong>Introduction: </strong>Over the past decade, hemophilia management has been transformed by modern prophylactic strategies, achieving dramatic reductions in annualized bleeding rates (ABR), often approaching zero. However, the conceptual evolution of hemophilia care toward multidimensional health assessment and comprehensive multidisciplinary management was initiated more than two decades ago through the adoption of functional, patient-reported, and biopsychosocial outcome frameworks. Despite these advances, their implementation in routine clinical practice remains incomplete, highlighting a persistent disconnect between hemostatic control and overall health.</p><p><strong>Aim: </strong>To examine how recent therapeutic innovations should be integrated within established multidimensional models of hemophilia care and to identify the remaining barriers to their implementation.</p><p><strong>Methods: </strong>Narrative literature review combined with the joint perspective of a French patient representative and hematologist.</p><p><strong>Results: </strong>We discuss the need to operationalize multidimensional outcome assessment by integrating patient-reported outcomes, joint health, functional status, participation, and sex-specific bleeding phenotypes, including menstrual bleeding and limitations of ABR as a measure of treatment success. Therapeutic innovation also introduces new challenges requiring individualized care, behavioral adaptation, long-term safety surveillance, and shared decision-making. Persistent implementation gaps include fragmented care pathways, unequal access to multidisciplinary expertise and specialized laboratory support, and limited integration of psychological, functional, cardiovascular, and behavioral dimensions into routine care.</p><p><strong>Conclusions: </strong>The challenge for modern hemophilia care is no longer to redefine comprehensive, patient-centered management, but to translate long-established multidimensional frameworks into everyday clinical practice. Achieving sustained health, autonomy, and meaningful participation will require strengthening multidisciplinary care models, and ensuring equitable implementation of comprehensive care.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148826809","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-Generated Haemophilia Data in the Digital Age: Unanswered Questions Under the European Regulatory Framework.","authors":"Manuel Rodríguez Lopez, Michael Calviño Suarez, Ramiro J Nuñez Vázquez, Daniel-Anibal Garcia Diego, María Teresa Alvarez Román","doi":"10.1111/hae.70371","DOIUrl":"https://doi.org/10.1111/hae.70371","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148826942","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":"Underdiagnosis of Von Willebrand Disease: The Silent Majority of Women in Brazil.","authors":"Yara Maria da Silva Pires, Gabriel Iamassaki Staquicini de Paula, Thyago César da Silva Pires","doi":"10.1111/hae.70390","DOIUrl":"https://doi.org/10.1111/hae.70390","url":null,"abstract":"<p><strong>Introduction: </strong>Von Willebrand disease (VWD) is the most common inherited bleeding disorder. Although autosomal inheritance predicts a similar distribution between sexes, women are more often diagnosed due to hemostatic challenges associated with menstruation and childbirth.</p><p><strong>Aim: </strong>To analyze temporal trends and the demographic profile of VWD in Brazil to support healthcare planning and public health strategies for early detection and multidisciplinary care in women with bleeding disorders.</p><p><strong>Methods: </strong>This retrospective cross-sectional study analyzed confirmed VWD cases in Brazil registered between 2017 and 2024 in the Hemovida Web Coagulopathies System. Annual case counts, sex distribution, clinical subtypes, and age groups were evaluated using descriptive statistics and linear regression.</p><p><strong>Results: </strong>The number of reported cases of von Willebrand disease rose from 8531 in 2017 to 12,063 in 2024, representing a 41.4% increase. Women constituted most cases throughout the study period. Despite the increasing number of registered cases, the sex proportion remained statistically stable (p > 0.05), indicating a persistent predominance of females. Type 1 was the most prevalent clinical subtype. The demographic profile showed a consistent concentration of registered adults of reproductive age across the entire historical series. The findings suggest persistent underdiagnosis of VWD in Brazil, likely due to structural, socioeconomic, and sociocultural barriers.</p><p><strong>Conclusion: </strong>VWD disproportionately affects females in Brazil. Expanding screening strategies, improving access to specialized laboratory testing, and raising awareness may support earlier diagnosis and improved care. Improving epidemiological data and identifying determinants of diagnostic delay may support healthcare planning and the development of public health strategies.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148827077","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":"Population-Level Real-World Healthcare Costs in Men and Women With Haemophilia A.","authors":"Sam Hirniak, Samantha S M Drover, Andrea N Edginton, Dagmar M Hajducek, Alfonso Iorio, Mhd Wasem Alsabbagh, William W L Wong","doi":"10.1111/hae.70388","DOIUrl":"https://doi.org/10.1111/hae.70388","url":null,"abstract":"<p><strong>Introduction: </strong>Even with modern prophylaxis options, people living with haemophilia have significantly lower quality of life and joint health outcomes than those without.</p><p><strong>Aim: </strong>Our goal was to determine if real-world health-system costs are higher for people living with haemophilia A compared to those without and determine how joint-health state impacts this cost.</p><p><strong>Methods: </strong>We utilized a population-level, retrospective study design using health administrative data to determine the impact of sex and joint-health states on cross-sectional cost. Cases were identified using diagnostic codes. Joint health states were determined in 30-day intervals by stepping forward and backward from joint replacement surgeries. Control groups were established through propensity score matching, aligning participants based on demographic, economic and health-related variables. Direct 30-day medical costs were generated in 2022 CAD. The impact of sex and disease health phases on direct healthcare system costs was analyzed through a two-part regression model.</p><p><strong>Results: </strong>2341 eligible individuals with haemophilia A were identified. 26% were female. In pre-severe joint damage, mean 30-day costs were higher for patients with haemophilia A-$910 (standard deviation SD: $4069) for females and $724 (SD: $3577) for males, compared to $469 (±$2126) and $352 (±$2188) for matched controls, respectively. The regression model showed that current joint health state, number of other comorbidities, haemophilia status and sex were important factors within healthcare system cost.</p><p><strong>Conclusions: </strong>The results of this study indicate that even with haemophilia treatment there remains an increased healthcare system cost for those with haemophilia A, regardless of sex.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148826951","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":"Management of Acute Pulmonary Embolism in a Patient With Hereditary Factor X Deficiency.","authors":"Kimberly Feng, Ishan Tatake, Ji Tong Liu, Pansy Elsamadisi, Jason A Freed","doi":"10.1111/hae.70385","DOIUrl":"https://doi.org/10.1111/hae.70385","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148792329","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":"Persistent Hypersensitivity Reactions Associated With Anti-PEG IgM Antibodies During On-Demand Therapy With PEGylated Factor VIII in Mild Hemophilia A.","authors":"Atsuki Yamashita, Mieko Akita, Yotaro Umezawa, Mika Mori, Tomoko Ashikaga, Chiai Nagae, Noriko Suzuki, Satoshi Yamazaki, Shigenobu Takayama, Masashi Taki","doi":"10.1111/hae.70375","DOIUrl":"https://doi.org/10.1111/hae.70375","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2026-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148792264","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}