Haemophilia最新文献

{"title":"Determination of body composition by dual x-ray absorptiometry in persons with haemophilia","authors":"Pia Ransmann,&nbsp;Marius Brühl,&nbsp;Jamil Hmida,&nbsp;Georg Goldmann,&nbsp;Johannes Oldenburg,&nbsp;Anna Christina Strauss,&nbsp;Thorsten Hagedorn,&nbsp;Frank Alexander Schildberg,&nbsp;Thomas Hilberg,&nbsp;Andreas Christian Strauss","doi":"10.1111/hae.15091","DOIUrl":"10.1111/hae.15091","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is limited research on body composition in persons with haemophilia (PwH). The literature describes an increased body fat distribution and decreased lean mass in PwH compared to healthy controls using bioimpedance analysis. Using dual x-ray absorptiometry (DXA), which is known to be the most accurate method, this investigation aims to postulate reference data for body composition parameters within haemophilia severity phenotypes and age groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Persons underwent whole body DXA screening using Horizon. Body fat percentage, estimated visceral adipose tissue (VAT), appendicular fat and lean mass, and lean and fat mass in relation to body height were assessed. Haemophilia severity and five age groups were distinguished.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two hundred and one persons with mild (<i>n</i> = 44), moderate (<i>n</i> = 41), or severe (<i>n</i> = 116) haemophilia A/B (median age 40 [28–55; 1.IQ–3.IQ] years) were analysed. The median body fat percentage was 28.7% [25.5%–33.9%] and median estimated VAT was 657 g [403–954 g] with no significant difference between severity phenotypes (<i>p</i> = .474; <i>p</i> = .781). Persons with severe haemophilia had less lean mass compared to moderate and mild haemophilia (<i>p</i> = .013; <i>p</i> = .034). Total and appendicular fat is increased in older PwH (aged ≥40 years) compared to younger PwH (aged ≤29 years; <i>p</i> &lt; .05). Lean mass did not differ between age groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study provides valuable reference data for body composition parameters in PwH. Persons with severe haemophilia show significantly less lean mass compared to persons with moderate or mild haemophilia. Body fat percentage and VAT did not differ between severity phenotypes, but increased with age.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 6","pages":"1332-1340"},"PeriodicalIF":3.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15091","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142106730","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":"Differences and similarities in patient-reported outcomes among men and women with haemophilia","authors":"Christine L. Kempton,&nbsp;Sara A. Guasch,&nbsp;Tyler W. Buckner,&nbsp;Shanna Mattis,&nbsp;Stacey A. Fedewa","doi":"10.1111/hae.15090","DOIUrl":"10.1111/hae.15090","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Both men and women can be diagnosed with haemophilia and the experience with haemophilia may be different between men and women.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>This study aimed to compare patient-reported outcomes in men versus women with haemophilia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study is a post-hoc analysis of data collected as part of the Haemophilia-related Distress Questionnaire validation study. Adults aged ≥18 years with haemophilia A or B were recruited from one of two haemophilia treatment centres between July 2017 and December 2019. Outcomes included quality of life, measures of mental and physical health, and overall health. Unadjusted and multivariable linear regression models were used to examine potential mediators of sex-based differences in outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 139 study participants included (21 women, 118 men), the mean age was 36.9 years and most (89.2%) had haemophilia A. Approximately 85.7% and 26.3% of women and men had mild haemophilia, respectively.  PHQ-9 depression and PROMIS-29 Profile anxiety and fatigue scores were significantly higher in women than men in unadjusted and adjusted analyses. There were no statistically significant differences in other outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Women with haemophilia are more likely to experience depression, anxiety, and fatigue than men with haemophilia. This study highlights the need for mental health services to be integrated into the care of women with haemophilia. Future research is needed to understand whether women with haemophilia are more or less likely to experience depression, anxiety, and fatigue than women without haemophilia as well as determine the impact of reduced mental health on clinical outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 6","pages":"1383-1392"},"PeriodicalIF":3.0,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15090","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142072601","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":"Comprehensive laboratory assessment of lonoctocog alfa versus octocog alfa in severe haemophilia A","authors":"Jens Müller,&nbsp;Thilo Albert,&nbsp;Claudia Klein,&nbsp;Silvia Horneff,&nbsp;Heiko Rühl,&nbsp;Bernd Pötzsch,&nbsp;Georg Goldmann,&nbsp;Natascha Marquardt,&nbsp;Johannes Oldenburg","doi":"10.1111/hae.15089","DOIUrl":"10.1111/hae.15089","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Lonoctocog alfa is a single-chain factor VIII (FVIII) molecule with high binding affinity to von-Willebrand-factor. While it is well known that its plasma activity is underestimated by one-stage clotting assays (OSCA), there is a lack of knowledge on the post-infusion performance of lonoctocog alfa in global coagulation assays or its potential impact on the haemostatic balance in vivo.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To characterize lonoctocog alfa versus octocog alfa in pre- and post-infusion samples obtained from patients undergoing repeated investigation of incremental recovery (IR).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Eighteen patients with severe haemophilia A (lonoctocog alfa: 10, octocog alfa: 8) were included. A panel of factor-specific and global coagulation assays was applied, comprising a FVIII OSCA, two FVIII chromogenic substrate assays (CSA), rotational thrombelastography and thrombin generation (TG). Potential activation of coagulation was assessed by measuring plasma thrombin markers and levels of activated protein C.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Comparable IRs were found for lonoctocog alfa and octocog alfa (2.36 [IU/dL]/[IU/kg] vs. 2.55 [IU/dL]/[IU/kg], respectively). Lonoctocog alfa activities were found to be underestimated by the FVIII OSCA while also the two FVIII CSAs showed statistically significant assay discrepancies on lonoctocog alfa. Effects of both FVIII products on rotational thrombelastography were less distinct than those on TG parameters. No elevated pre- or significantly shifting post-infusion plasma levels of coagulation biomarkers were detected.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Lonoctocog alfa and octocog alfa showed comparable recovery and safety in vivo as well as similar impacts on TG in vitro. Observed assay discrepancies on lonoctocog alfa demonstrated variability of results also between different FVIII CSAs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 5","pages":"1203-1209"},"PeriodicalIF":3.0,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15089","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008676","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":"Driving improvement of diagnosis and awareness of heavy menstrual bleeding in women among physicians","authors":"Rezan Adbul Kadir,&nbsp;Ahmad Tarawah,&nbsp;Naveen Shridhar,&nbsp;Roshni Kulkarni","doi":"10.1111/hae.15088","DOIUrl":"10.1111/hae.15088","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>A number of barriers in care exist for women/girls with bleeding disorders. Little progress has been made to overcome them, particularly regarding levels of awareness of healthcare professionals (HCPs) and women/girls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To evaluate awareness and perception of heavy menstrual bleeding (HMB) and bleeding disorders among HCPs and women/girls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A three-part qualitative study was conducted, including HCPs and women/girls from over seven countries. Part 1 included eleven 60-min interviews with experts discussing HMB diagnostic barriers, which were further assessed in surveys among 6099 women/girls, 353 general practitioners (GPs), and 426 obstetricians and gynaecologists (OB/GYNs) during Part 2. Part 3 included three 1.5–2-h workshops with 20 clinicians and patient representatives covering HMB knowledge, criteria defining HMB and HCP resourcing for diagnosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Many HCPs do not conduct certain investigations for women/girls presenting with HMB, and 22% of GPs lack confidence in the management of HMB. Only 8% of GPs use screening tools to evaluate menstrual blood loss, and 13% of GPs and 15% of OB/GYNs assess underlying bleeding disorders. Seventy-six percent of menstruating women/girls believed they could recognise HMB symptoms ‘well’. However, 23% of these women/girls would not seek medical advice for abnormal/prolonged menstruation disrupting their lives. Disruptions were reported in 34% of women/girls from the general population and 61% of women with at-risk symptoms of HMB.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Many women/girls and HCPs have limited awareness of important HMB indicators. There is a need for standardized clinical criteria to promote efficient diagnoses and management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 5","pages":"1185-1192"},"PeriodicalIF":3.0,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15088","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008677","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":"Transitioning patients with severe haemophilia A from emicizumab prophylaxis to valoctocogene roxaparvovec gene therapy: Real-world clinical experience","authors":"Robert Klamroth,&nbsp;Saskia Gottstein","doi":"10.1111/hae.15086","DOIUrl":"10.1111/hae.15086","url":null,"abstract":"&lt;p&gt;Dear Editor&lt;/p&gt;&lt;p&gt;Valoctocogene roxaparvovec is a gene therapy that has been approved for the treatment of adults with severe haemophilia A since 2022 in Europe and 2023 in the USA.&lt;span&gt;&lt;sup&gt;1, 2&lt;/sup&gt;&lt;/span&gt; It uses an adeno-associated virus serotype 5 to deliver a functional copy of the B-domain-deleted factor VIII (FVIII)-encoding gene, &lt;i&gt;F8&lt;/i&gt;, to hepatocytes, via a single infusion, to allow long-term expression of endogenous FVIII and prevention of bleeding in adults with severe haemophilia A.&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;Emicizumab, a humanised, recombinant, bispecific monoclonal antibody, has been approved in the USA and Europe since 2018 as routine prophylaxis for patients with severe haemophilia A, regardless of FVIII inhibitor status.&lt;span&gt;&lt;sup&gt;4-6&lt;/sup&gt;&lt;/span&gt; Emicizumab is administered subcutaneously at a dose of 3 mg/kg once weekly for the first 4 weeks, followed by a maintenance dose of 1.5 mg/kg once every week, 3 mg/kg once every 2 weeks or 6 mg/kg once every 4 weeks.&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; It acts by mimicking the function of activated FVIII and has a half-life of approximately 28−34 days.&lt;span&gt;&lt;sup&gt;7&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;Whilst the availability of gene therapy for severe haemophilia A represents a significant therapeutic milestone, new therapies may pose challenges to physicians on how to practically implement them within a patient's current treatment regimen. One such topic, addressed in the July 2024 issue of &lt;i&gt;Haemophilia&lt;/i&gt;, is how to transition patients from one therapy to another.&lt;span&gt;&lt;sup&gt;8&lt;/sup&gt;&lt;/span&gt; Agarwal et al. used pharmacokinetic simulations to determine best practice for maintaining haemostatic control whilst transitioning patients from emicizumab prophylaxis to valoctocogene roxaparvovec gene therapy. Bleeding risk was estimated at three approved emicizumab dosing regimens (once a week, once every 2 weeks and once every 4 weeks) across two transition scenarios: last dose of emicizumab given on the day of valoctocogene roxaparvovec infusion versus last dose of emicizumab administered 4 weeks post-infusion. Haemostatic control was maintained regardless of emicizumab dosing regimen or scenario, suggesting that several approaches can safely transition patients from emicizumab prophylaxis to valoctocogene roxaparvovec gene therapy in the clinic.&lt;/p&gt;&lt;p&gt;An algorithm was subsequently presented to guide the timing of emicizumab discontinuation when transitioning to gene therapy. The authors suggested that FVIII activity levels should be evaluated 4 weeks post-valoctocogene roxaparvovec infusion. If FVIII is ≥ 5 IU/dL at Week 4 and remains ≥ 5 IU/dL at Week 5, discontinuation of emicizumab can be considered. If FVIII activity is &lt; 5 IU/dL at Week 4, prescribers should consider continuing emicizumab prophylaxis until two consecutive weekly measurements of ≥ 5 IU/dL are achieved.&lt;/p&gt;&lt;p&gt;Here, we present details of our real-world clinical experience of transitioning an adult male patient with severe haemophilia","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 5","pages":"1247-1249"},"PeriodicalIF":3.0,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970960","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":"Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys","authors":"Kimberley Talbot,&nbsp;Jina Song,&nbsp;John R. Perrier,&nbsp;Shannon Jackson,&nbsp;Ross T. A. MacGillivray,&nbsp;Edward L. G. Pryzdial","doi":"10.1111/hae.15087","DOIUrl":"10.1111/hae.15087","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Congenital factor V (FV) deficiency is a rare clotting disorder affecting ∼1 in 1,000,000, with bleeding severity that ranges broadly for poorly understood reasons.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To help understand the molecular basis of the observed phenotype in FV deficient patients, the genetics and biochemistry causing a patient's FV deficiency were evaluated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods and Results</h3>\u0000 \u0000 <p>A 71-year-old female, who had serious life-long bleeding upon provocation and profound menorrhagia that lead to hysterectomy, was found to have 3% of normal plasma FV antigen with normal electrophoretic mobility. Platelet FV was similarly low, although the banding pattern was less fragmented than normal. Plasma clotting activity was &lt;1% of normal. Familial inheritance and DNA sequence analysis from peripheral blood leukocytes were consistent with novel compound heterozygosity with missense mutations in exon XVII, Leu1821 to Ser (L1821S) and exon XXV, Gly2192 to Cys (G2192C). The respective single-mutation variants were expressed and purified. Explaining why the antigen level and activity were inequivalent, thrombin activation of recombinant (<i>r</i>) FV/L1821S was impaired, and rFV/G2192C was unable to bind to a procoagulant phospholipid membrane.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings are consistent with the observed phenotype, highlighting the importance of understanding FV biochemical function to rationalize clinical bleeding severity when the circulating antigen level is discordant.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 5","pages":"1170-1176"},"PeriodicalIF":3.0,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15087","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906403","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":"Bioclinical features of haemophilia patients in Benin in 2023: Towards better care","authors":"Tatiana Baglo,&nbsp;Alban Zohoun,&nbsp;Falilatou Agbeille Mohamed,&nbsp;Ferrelle Araba,&nbsp;Bienvenu Houssou,&nbsp;Ludovic Anani,&nbsp;Dorothée Kindé-Gazard,&nbsp;Awa Touré Fall,&nbsp;Anne Ryman,&nbsp;Yves Gruel,&nbsp;Claire Pouplard","doi":"10.1111/hae.15082","DOIUrl":"10.1111/hae.15082","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To analyse the demographic, clinical and laboratory data of Beninese patients with haemophilia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>A prospective survey was conducted in three different hospitals of Benin from April 2021 to March 2022, to analyse clinical and biological features of patients with haemophilia previously diagnosed or identified based on personal/family history.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 101 patients were studied, 97 with haemophilia A and 4 with haemophilia B, including 26 new cases identified after family investigation. Their median age was 11 years, and the most frequent initial manifestations were cutaneous-mucosal haemorrhages (29.70%) and post-circumcision haemorrhages (25.74%). Previous joint bleedings were present in 77% of them, with an arthropathy in 65 cases, which particularly affected the knees (75%), elbows (41%) and ankles (29%). Factor VIII (FVIII) levels combined with activated partial thromboplastin time (APTT) values did not always enable, as would be expected, the distinction between severe and moderate haemophilia, since they were &gt;1 IU/dl in 31 of 74 patients with APTT &gt; 80 s, and between 1 and 2 IU/dl in 26 other cases with previous joint haemorrhages, including 18 with chronic arthropathy. Therefore, for these patients, severe haemophilia could not be excluded, and this uncertainty probably reflects technical difficulties affecting the pre-analytical and analytical stages of the APTT and FVIII/IX assays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study proved that haemophilia is a significant reality in Benin, but also remains under-diagnosed in some districts of the country. In addition, more reliable biological tests are needed in the future to better define the severity of the disease and improve treatment of patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 5","pages":"1210-1216"},"PeriodicalIF":3.0,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906351","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":"Sexual functioning in men with haemophilia: Data from the haemophilia in the Netherlands-6 study","authors":"Tessa C. M. van Gastel,&nbsp;Lorynn Teela,&nbsp;Evelien P. Mauser-Bunschoten,&nbsp;Michiel Coppens,&nbsp;Marjolein Peters,&nbsp;Karin C. J. Fijnvandraat,&nbsp;Lotte Haverman,&nbsp;Samantha C. Gouw","doi":"10.1111/hae.15083","DOIUrl":"10.1111/hae.15083","url":null,"abstract":"","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 5","pages":"1243-1246"},"PeriodicalIF":3.0,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901459","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":"Acute neuromuscular and perceptual responses to blood flow restriction exercise in adults with severe haemophilia: A pilot study","authors":"Daniel C. Ogrezeanu,&nbsp;Joaquín Calatayud,&nbsp;Sergi Rodríguez,&nbsp;Juan J. Carrasco,&nbsp;Eduardo Martinez-Valdes,&nbsp;José Casaña,&nbsp;Carlos Cruz-Montecinos,&nbsp;Lars L. Andersen,&nbsp;Per Aagaard,&nbsp;Rubén López-Bueno,&nbsp;Sofía Pérez-Alenda","doi":"10.1111/hae.15084","DOIUrl":"10.1111/hae.15084","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>No previous studies have implemented a standard blood flow restriction (BFR) training session in people with severe haemophilia (PwH), where this type of training has been contraindicated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>The purpose of this study was to evaluate the tolerability, adverse events, and neuromuscular and perceptual responses to an acute session of low load (LL) knee extensions with BFR in PwH under prophylaxis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Eight PwH performed one LL-BFR session with 40% arterial occlusion pressure (AOP). Perceptual responses and adverse effects were assessed, together with high-density surface electromyography of vastus medialis (VM) and lateralis (VL).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Significant normalized root mean square differences were found within each set, but not between sets. Spatial distribution (centroid displacement (<i>p</i> &gt; .05), modified entropy (VM, set two, cycles three and five, <i>p</i> = .032) and coefficient of variation (VM, set two, cycles four and five lower than cycle three (<i>p</i> = .049; <i>p</i> = .036)) showed changes within each set. Median frequency showed a slight increase during cycle four of set four (<i>p</i> = .030). Rate of perceived exertion slightly increased with each set while tolerability slightly decreased in the last set and fear of training with BFR generally decreased after the session.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In PwH, a LL-BFR session at 40% AOP is safe and feasible. Our results suggest that potential muscle impairments may blunt neuromuscular adaptations induced by BFR.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 5","pages":"1193-1202"},"PeriodicalIF":3.0,"publicationDate":"2024-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/hae.15084","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888977","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":"Diagnosis and management of factor XI alloinhibitors in patients with congenital factor XI deficiency—A large single-centre experience","authors":"Kirollos Salah Kamel,&nbsp;Anne Riddell,&nbsp;Bilal Jradeh,&nbsp;Ewa Jaslowska,&nbsp;Keith Gomez","doi":"10.1111/hae.15081","DOIUrl":"10.1111/hae.15081","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Factor (F) XI deficiency is an inherited bleeding disorder with increased prevalence in Ashkenazi Jews where it is mainly caused by two variants, p.Glu135* (type II, leading to a null allele) and p.Phe301Leu (type III, missense variant). Inhibitor development is rare, and only seen in severe FXI deficiency (&lt;20 IU/dL) upon exposure to plasma-based products. We report our experience of a large cohort of patients with severe FXI deficiency, including seven patients who developed FXI alloinhibitors, their presentation, natural history and subsequent perioperative management.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A single-centre retrospective database review of patients with FXI deficiency, including those who have subsequently developed inhibitors, and extraction of clinical, laboratory and genotype data, including operative management records.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 682 patients were identified with FXI deficiency, of whom 113 had FXI &lt; 20 IU/dL and 42 had FXI ≤ 1 IU/dL. Factor XI inhibitors were seen in seven patients, six of whom were homozygous for the type II variant (prevalence of inhibitor with this genotype of 30%, risk of inhibitor upon plasma exposure 50%). FXI inhibitors were not seen, despite similar exposures, in patients with other genotypes. No alteration in bleeding phenotype occurred after inhibitor development and subsequent surgery was managed on 13 occasions with recombinant factor VIIa (rFVIIa), including low doses (15–30 µg/kg), with good haemostasis. The inhibitor spontaneously disappeared in four of seven patients over 1–22 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>FXI inhibitors were only observed in severe FXI deficient patients homozygous for p.Glu135* (null allele) upon plasma or FXI concentrate exposure, with a 30% prevalence. The bleeding phenotype was not altered and inhibitors may disappear with time. Adequate haemostasis in the perioperative setting is achievable with low doses of rFVIIa.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12819,"journal":{"name":"Haemophilia","volume":"30 5","pages":"1155-1163"},"PeriodicalIF":3.0,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747863","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}