Haemophilia最新文献

{"title":"Obstetric and Gynaecological Challenges and Outcomes in Women and Girls With Glanzmann's Thrombasthenia.","authors":"Deborah Obeng-Tuudah, Ahmad Tarawah, Melike Ozkan, Rezan Abdul-Kadir","doi":"10.1111/hae.70030","DOIUrl":"https://doi.org/10.1111/hae.70030","url":null,"abstract":"<p><strong>Introduction: </strong>Glanzmann's thrombasthenia (GT) is an inherited platelet function disorder that may manifest with significant bleeding symptoms; in women and girls (W&Gs), heavy menstrual bleeding (HMB) is very common. GT in pregnancy is associated with an increased risk of postpartum haemorrhage (PPH).</p><p><strong>Aim: </strong>This study highlights the gynaecological and obstetric challenges experienced by W&Gs with GT, and reviews available treatment options.</p><p><strong>Methods: </strong>Data regarding 38 W&Gs with GT were analysed from the ISTH REDCap registry, an international multi-centre database.</p><p><strong>Results: </strong>Among 38 W&Gs, 76% of Middle Eastern ethnicity, 100% reported HMB; 92% HMB since menarche, and 82% presented with acute HMB and were treated with platelets and packed red blood cells (pRBCs) transfusions in addition to hormonal therapies. Management of chronic HMB required a combination therapy including antifibrinolytics (tranexamic acid [TXA]), hormonal therapies, and recombinant factor VIIa (rFVIIa); rFVIIa was used in 50% of W&Gs. In 16 pregnancies, PPH was reported in 63% of deliveries, of which 83% required blood and platelet transfusions. Despite prophylactic haemostatic agents during labour and delivery in 8/9 pregnancies of women with known GT diagnosis, 78% experienced PPH. Thirty-one percent of neonates developed neonatal alloimmune thrombocytopenia (NAIT).</p><p><strong>Conclusion: </strong>HMB and PPH are common bleeding complications in GT. Effective management of HMB and PPH in W&Gs with GT is challenging but can be achieved by a multidisciplinary team, often requiring a combination of haemostatic agents with hormonal therapies. Use of rFVIIa may limit the need for platelet transfusion, thus reducing alloimmunisation and the risk of developing NAIT.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691872","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":"Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro-Caribbeans: Results From a Study in Martinique Island, French West Indies.","authors":"Marie-Daniéla Dubois, Olivier Nicolas Pierre-Louis, Serge Pierre-Louis, Pierre Boisseau, Cécile V Denis, Annabelle Dupont, Jenny Goudemand, Caterina Casari, Emmanuelle Jeanpierre, Christophe Zawadzki, Béatrice Ferrey, Johalène Rabout, Pascal Fuseau, Emelyne Chonville, Franck Michel, Marie-Nadiège Yerro, Yves Gruel, Olivier Christophe, Peter J Lenting, Eustase Janky, Sophie Susen, Rémi Neviere","doi":"10.1111/hae.70003","DOIUrl":"https://doi.org/10.1111/hae.70003","url":null,"abstract":"<p><strong>Background: </strong>Several cohort studies have investigated the molecular basis of von Willebrand disease (VWD); very few have focused on the Afro-Caribbean population.</p><p><strong>Objectives: </strong>To determine the genotypic and phenotypic characterization of VWD in a large cohort of Afro-Caribbean patients living in Martinique.</p><p><strong>Materials and methods: </strong>A total of 31 families comprising 63 Afro-Caribbean patients with VWD were enrolled. A standardized questionnaire and blood samples were collected for biological and molecular genetic analyses of von Willebrand factor (VWF). The impact of new missense variants has been predicted by in silico studies.</p><p><strong>Results: </strong>The median age of patients was 53 years (range 9-99). The most frequent symptoms were menorrhagia (49%), easy bruising (44%) and prolonged bleeding after tooth extraction (42%). Fifteen patients (24%) had quantitative deficiencies of VWF, of whom 13 (21%) were assigned as VWD-type 1, 1 (1%) as VWD-type 1C and 1 (2%) as VWD-type 3. Forty-five patients were diagnosed with VWD-type 2 (qualitative defects of VWF) (71%). VWD-type 2A was the most frequent, with 36 patients. Seven patients had VWD-type 2M and two patients had VWD-type 2B. Three patients (5%) had an indeterminate effect of the VWF defect due to ISTH BAT at 0. Forty-eight different VWF variants, including 4 novel variants, were identified in 63 patients. The variants consisted of 34 (71%) missense, 7 (15%) synonymous, 3 (6%) frameshifts, 2 (4%) small deletions and 2 (4%) gene conversions.</p><p><strong>Conclusions: </strong>This study emphasizes the unique distribution of genotypes in our cohort of Afro-Caribbean VWD patients living in Martinique.</p><p><strong>Essentials: </strong>Genotype-phenotype correlation was assessed in VWD Afro-Caribbean patients with one or more VWF variants. Menorrhagia, easy bruising and prolonged bleeding after tooth extraction are common in VWD patients. Efforts to increase the awareness and diagnosis of VWD have contributed to a better identification of patients with bleeding disorders.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691867","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":"The Iron Ladies: Prevalence and Risk Factors of Iron Deficiency in Females With Bleeding Disorders.","authors":"Meghan McCormick, Jianzhong Hu, Martin Chandler, Matthew Manuel, Tammuella Chrisentery-Singleton, Margaret V Ragni","doi":"10.1111/hae.70004","DOIUrl":"https://doi.org/10.1111/hae.70004","url":null,"abstract":"<p><strong>Introduction: </strong>Iron deficiency (ID) impairs cognitive and physical function. Females with bleeding disorders (FBD) are at risk of ID as a result of bleeding symptoms.</p><p><strong>Aim: </strong>This study aimed to report the overall incidence and prevalence of ID in FBD, identify factors associated with ID and describe the screening practices for and management of ID within haemophilia treatment centres (HTC).</p><p><strong>Methods: </strong>Electronic surveys were distributed to medical providers caring for FBD within HTCs participating in the American Thrombosis Haemostasis (ATHN) affiliate network to gather data on practices for screening of ID and the use of iron supplementation. We next used the ATHNdataset to identify females 13-40 years of age receiving care at an ATHN-affiliated HTC between 2015 and 2019. Prevalence and incidence of ID were estimated based on the presence of one of the following lab results: transferrin >360 mg/dL, total iron binding capacity (TIBC) >460mcg/dL, % saturation <20% or ferritin <50 ng/mL, and clinical and demographic characteristics associated with ID were identified using logistic regression.</p><p><strong>Results: </strong>Although all providers reported screening for ID, only 70% did so as part of their routine practice and significant variation existed in the form of iron supplementation used. Only 3.6% of participants in the ATHNdataset were tested for ID, and 71.9% of tested participants were ID. Black or African American race, platelet disorder and heavy menstrual bleeding were associated with increased risk of ID.</p><p><strong>Conclusion: </strong>ID is highly prevalent among FBD and is underrecognised and undertreated. Practitioners should standardise practices to identify and manage ID.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648330","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":"Comorbidity and Mortality in Men and Women With Haemophilia in Three Nordic Countries-Comparisons to Matched Controls.","authors":"Katarina Steen Carlsson, Jan Astermark, Fariba Baghaei, Elisabeth Brodin, Eva Funding, Margareta Holmström, Klaus Österholm, Sofia Bergenstråle, Stefan Lethagen","doi":"10.1111/hae.70023","DOIUrl":"https://doi.org/10.1111/hae.70023","url":null,"abstract":"<p><strong>Introduction: </strong>Comorbidities and public health conditions in haemophilia are receiving increasing attention.</p><p><strong>Aim: </strong>To analyse the prevalence of comorbidities and mortality in people with haemophilia (PwH) compared to matched controls in subgroups (factor consumption and sex).</p><p><strong>Methods: </strong>This study used longitudinal individual-level data (11 years) from national registers in three Nordic countries (Denmark, Finland and Sweden) from the MIND study (NCT03276130) for PwH and matched controls (1:5 on birth year and sex). It compared the prevalence of arthropathy, human immunodeficiency virus (HIV), hepatitis, depression, anxiety, hypertension, ischaemic heart disease, atrial fibrillation, stroke, diabetes, cancer, kidney disease and epilepsy, and mortality. Three severity subgroups for PwH were identified by use of factor concentrates and sex, including female carriers.</p><p><strong>Results: </strong>Data for 2716 PwH (24,921 person-years) were analysed. PwH had increased prevalence of single and multiple comorbidities (p < 0.001), and increased mortality (p < 0.001). Arthropathy was more prevalent in all male PwH subgroups in Nordic countries, and among women including carriers in Sweden (odds ratios: ∼2→12). Arthropathy was a concomitant comorbidity alongside depression, hypertension, cardiovascular conditions, diabetes, hepatitis and HIV. Hypertension was more prevalent for PwH than controls in most subgroups. Hepatitis and HIV had the highest odds ratios among PwH in Denmark and Sweden.</p><p><strong>Conclusion: </strong>Arthropathy occurs in combination with a complex of comorbidities. The potential common pathophysiologic denominator should be further explored. Higher prevalence of comorbidities and mortality rates in men and women with haemophilia call for a holistic approach with more ambitious treatment goals for PwH across severities and sexes.</p><p><strong>Trial registration: </strong>The MIND Study was registered at ClinicalTrials.gov: NCT03276130.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656936","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":"Safety and Efficacy of Long-Term Treatment of Type 1 Plasminogen Deficient Patients With Intravenous Plasminogen Replacement Therapy.","authors":"Amy D Shapiro, Heather McDaniel, Robert W Decker, Charles Nakar, Jeremy Lorber, Neelam Thukral, Joseph M Parker, Karen Thibaudeau","doi":"10.1111/hae.70019","DOIUrl":"https://doi.org/10.1111/hae.70019","url":null,"abstract":"<p><strong>Introduction: </strong>Type 1 plasminogen deficiency (PLGD-1), or hypoplasminogenaemia, is an ultra-rare autosomal-recessive disorder characterised by fibrin-rich lesions on mucous membranes, often leading to serious complications if left untreated. Prior treatments have shown limited and inconsistent success, but IV PLG concentrate (Ryplazim) offers a targeted therapy.</p><p><strong>Aim: </strong>This study investigated the long-term safety and efficacy of IV PLG concentrate treatment for PLGD-1 patients.</p><p><strong>Methods: </strong>A long-term study (NCT03642691) followed 12 participants who had previously been included in pivotal or expanded access trials of IV PLG concentrate. Participants received 6.6 mg/kg IV PLG concentrate infusions, with dosing frequency adjusted based on clinical response and plasminogen levels. Safety assessments and plasminogen level measurements were conducted.</p><p><strong>Results: </strong>The median treatment duration during this long-term follow-up study was 41 months (range: 25-42 months). The median total exposure for participants in this study throughout the clinical development was 68 months (range: 28-71 months). No new or recurring ligneous lesions occurred when participants adhered to the prescribed regimen. Temporary disruptions in the drug supply led to some lesion recurrences, which resolved upon resuming the prescribed dosing frequency. A total of 2165 infusions were administered in this study, and most adverse events were mild. No anti-plasminogen antibodies or treatment-related fatalities occurred.</p><p><strong>Conclusion: </strong>Long-term treatment with IV PLG concentrate is safe and effective for PLGD-1, demonstrating the potential for tailored dosing regimens. This study highlights the importance of individualised treatment and provides valuable insights into managing this ultra-rare disorder.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648329","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":"Real-World Treatment Patterns and Long-Term Clinical Outcomes in Thai Patients With Acquired Haemophilia A.","authors":"Nonthakorn Hantrakun, Piangrawee Niprapan, Pakinee Tuntivate, Nuttanun Wongsarikan, Lalita Norasetthada, Adisak Tantiworawit, Ekarat Rattarittamrong, Chatree Chai-Adisaksopha, Thanawat Rattanathammethee, Sasinee Hantrakool, Pokpong Piriyakhuntorn, Teerachat Punnachet","doi":"10.1111/hae.70028","DOIUrl":"https://doi.org/10.1111/hae.70028","url":null,"abstract":"<p><strong>Introduction: </strong>Data regarding long-term clinical outcomes in Asian patients with acquired haemophilia A (AHA) was limited.</p><p><strong>Aim: </strong>This study aimed to evaluate the effectiveness of current treatments and their outcomes in a real-world setting among Thai patients with AHA.</p><p><strong>Methods: </strong>This was a retrospective cohort study conducted at a university-based hospital. Patients' characteristics, treatment patterns and disease outcomes were collected. Univariate and multivariate Gray's competing risk analyses were used to examine the factors related to the time to disease response.</p><p><strong>Results: </strong>From 2009 to 2022, 69 AHA patients with a median age of 68 years (range 36-97) were enrolled. The majority of cases were characterised by the absence of an underlying aetiology (82.6%) and presented as major bleeding (71.0%). As first-line treatment, 79.7% were treated with steroid monotherapy, and 13.0% received a combination of steroid and rituximab. Thirty-one patients (44.9%) received at least one dose of haemostatic agents. After a median time to follow-up of 24.9 months (interquartile range 1.6-78.5), 41 patients (59.4%) attained first disease remission. Factor VIII below 1 IU/dL and the combination of steroid and rituximab were associated with time to disease remission, with subdistribution hazard ratio of 0.3 (95% confidence interval [CI], 0.1-0.7) and 5.2 (95% CI, 2.0-13.4), respectively. The most common complication in this cohort was infection (40.6%).</p><p><strong>Conclusion: </strong>The combination of steroid and rituximab demonstrated efficacy in the management of AHA. In addition, infectious complications were a significant concern when treating AHA patients.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648319","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":"Perioperative Management With Efanesoctocog Alfa in Patients With Haemophilia A in the Phase 3 XTEND-1 and XTEND-Kids Studies.","authors":"Robert Klamroth, Annette von Drygalski, Cedric Hermans, Young-Shil Park, Anthony K C Chan, Alphan Kupesiz, María Teresa Alvarez-Román, Lynn Malec, Elena Santagostino, Graham Neill, Linda Bystrická, Jennifer Dumont, Lydia Abad-Franch, Lila-Sabrina Fetita, Liane Khoo","doi":"10.1111/hae.70017","DOIUrl":"https://doi.org/10.1111/hae.70017","url":null,"abstract":"<p><strong>Introduction: </strong>The Phase 3 studies, XTEND-1 (NCT04161495) and XTEND-Kids (NCT04759131), showed once-weekly efanesoctocog alfa provided high-sustained factor VIII (FVIII) activity levels that translated into highly effective bleed prevention in patients with severe haemophilia A.</p><p><strong>Aim: </strong>This analysis evaluated the efficacy and safety of efanesoctocog alfa for perioperative management during XTEND-1 and XTEND-Kids.</p><p><strong>Methods: </strong>Patients undergoing major or minor surgery were to receive a single preoperative 50 IU/kg dose, with additional 30 or 50 IU/kg doses every 2-3 days as needed following major surgery. Outcomes assessed included FVIII activity levels, number and dose of efanesoctocog alfa injections, surgeon's/investigator's assessment of haemostatic response, total factor consumption, estimated blood loss, number and type of blood transfusions, and safety.</p><p><strong>Results: </strong>In XTEND-1, 11 adults/adolescents underwent 12 evaluable major surgeries (6 orthopaedic). Eleven surgeries had one preoperative dose (median [range]: 49.9 [13-52] IU/kg); one had no preoperative dose. Median (range) total consumption from Day -1 to 14 was 163.3 (45-361) IU/kg. In XTEND-Kids, two children underwent major surgery with a single preoperative loading dose (60.4 and 61.9 IU/kg). Across trials, 15 adults/adolescents underwent 18 minor surgeries and 8 children underwent 9 minor surgeries, with a single preoperative dose or no preoperative dose (5 surgeries in adults/adolescents). Haemostatic response was rated excellent for all surgeries. No surgeries required blood transfusion. No safety concerns or inhibitor development was reported.</p><p><strong>Conclusion: </strong>Efanesoctocog alfa provided highly effective perioperative protection in patients with severe haemophilia A.</p><p><strong>Trial registration: </strong>XTEND-1: NCT04161495 https://clinicaltrials.gov/study/NCT04161495; XTEND-Kids: NCT04759131 https://clinicaltrials.gov/study/NCT04759131.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648316","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":"On the Price of Valoctogene Roxaparvovec in Germany and Italy.","authors":"Lidia Staszewsky, Alessandro Nobili, Livio Garattini, Pier Mannuccio Mannucci","doi":"10.1111/hae.70024","DOIUrl":"https://doi.org/10.1111/hae.70024","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648304","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":"Pathogenic Mechanisms in Congenital Afibrinogenemia: A Systematic Review of Genetic Variants.","authors":"Yang Li, Zirui Meng, Wei Qing, Ping Yi","doi":"10.1111/hae.70026","DOIUrl":"https://doi.org/10.1111/hae.70026","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital afibrinogenemia is a rare bleeding disorder characterized by the complete absence of plasma fibrinogen, primarily caused by homozygous or compound heterozygous mutations in the FGA, FGB and FGG genes.</p><p><strong>Aim: </strong>To deepen our understanding of the pathogenic mechanisms of afibrinogenemia through the study of natural variants.</p><p><strong>Methods: </strong>We conducted a literature review of all publications up to 2024 that report cases of afibrinogenemia with confirmed genetic diagnoses, focusing on the impact of mutations on fibrinogen synthesis, assembly and secretion.</p><p><strong>Results: </strong>We classified the pathogenic mechanisms of afibrinogenemia into the following seven categories: (1) Chromosomal structural variations, such as large deletions, disrupt the integrity of the fibrinogen gene cluster. (2) Splice site mutations interfere with the proper splicing of precursor mRNA, resulting in abnormal transcripts that cannot encode functional fibrinogen chains. (3) Start codon mutations prevent the initiation of translation, halting the synthesis of fibrinogen polypeptides. (4) Nonsense and frameshift mutations introduce termination codons, resulting in truncated fibrinogen chains. (5) Signal peptide mutations disrupt the targeting of polypeptides to the endoplasmic reticulum, preventing further post-translational modifications. (6) Mutations affecting disulphide bonds in the coiled-coil region hinder the assembly of fibrinogen chains, preventing the formation of complete hexamers. (7) Mutations affecting the correct conformation of β and γ nodules cause intra-cellular retention of fibrinogen and prevent its secretion.</p><p><strong>Conclusions: </strong>This review provides a comprehensive summary of mutations associated with afibrinogenemia, offering insights that contribute to the phenotypic prediction of novel mutations and providing a framework for understanding the molecular mechanisms of afibrinogenemia.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648307","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":"Fracture Risk in People With Haemophilia A and B: A Systematic Review and Meta-Analysis.","authors":"Efstathios Divaris, Ioannis Konstantinidis, Paraskevi Karvouni, Eleni Gavriilaki, Sofia Vakalopoulou, Dimitrios G Goulis, Panagiotis Anagnostis","doi":"10.1111/hae.70033","DOIUrl":"https://doi.org/10.1111/hae.70033","url":null,"abstract":"<p><strong>Introduction: </strong>Haemophilia A and B is a disease consistently associated with reduced bone mineral density, both in adults and children. However, whether haemophilia also increases fracture risk has not yet been proven.</p><p><strong>Aim: </strong>This systematic review and meta-analysis aimed to synthesize and analyse studies evaluating the association between haemophilia and fracture risk.</p><p><strong>Methods: </strong>Comprehensive research was conducted in three electronic databases (PubMed, CENTRAL, and Scopus) up to 30 June 2024. Data were expressed as relative risk (RR) with 95% confidence intervals (CI). The I² index was employed to evaluate heterogeneity.</p><p><strong>Results: </strong>Fourteen studies were included in the qualitative and four in the quantitative analysis (participants: 13,221, publication years: 2007-2022). Regarding design, five studies were retrospective cohorts, two were case-control, and seven were cross-sectional. Fracture prevalence in people with haemophilia (PWH) was 5.7%, ranging from 1.4% to 27.7% (data from 14 studies), compared with 0.9% in the control group, ranging from 0% to 5.1% (data from 3 studies). In comparison with healthy men, PWH demonstrated increased fracture risk (RR 4.56, 95% CI 1.28-16.25, p = 0.019, I² 90.74%). However, there was insufficient data to categorize fractures according to their location and to compare fracture incidence between patients receiving prophylaxis and those on-demand treatment, as well as according to the type or severity of haemophilia.</p><p><strong>Conclusion: </strong>This is the first meta-analysis showing a more than 4-fold increased fracture risk in PWH compared with the general population.</p>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648301","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}