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Democratisation of physiotherapy for people with haemophilia Haemophilia (IF 3.0) Pub Date : 2024-09-19 Carlos Cruz‐Montecinos, Sofía Pérez‐Alenda, Rodrigo Núñez‐Cortés, Carla Daffunchio
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Pathogenesis of osteoarthritis, rheumatoid arthritis, and hemophilic arthropathy: The role of angiogenesis Haemophilia (IF 3.0) Pub Date : 2024-09-19 Laura Caliogna, Micaela Berni, Camilla Torriani, Maria Elisa Mancuso, Matteo Nicola Dario Di Minno, Alice Maria Brancato, Eugenio Jannelli, Mario Mosconi, Gianluigi Pasta
IntroductionThe term ‘chronic inflammatory arthritis’ (IA) can be used to define a group of heterogeneous diseases in which inflammation of the synovium is the common feature while having different pathogenesis and clinical outcomes. This condition can be found in osteoarthritis (OA), rheumatoid arthritis (RA), and hemophilic arthropathy (HA).AimThe objective is to try to highlight similarities and
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Development of the coreHEM mental health patient‐reported outcome measure – A novel mental health outlook measure for people with haemophilia Haemophilia (IF 3.0) Pub Date : 2024-09-06 Elizabeth Clearfield, Hsing‐Yuan Chang, Ellen M. Janssen, Tabassum Majid, Donna A. Messner, Donna Coffin, Mohit Jain, Paul E. Monahan, Leonard A. Valentino, Michelle Witkop, Mark W. Skinner
IntroductionCurrently, no quality‐of‐life instrument exists that captures the full experience of the mental health outlook (MHO), a coreHEM core outcome, in people with haemophilia, including the potential transformational experience of receiving gene therapy.AimTo describe the methods used to develop a content validated patient‐reported outcome measure (PROM) that measures MHO for people with haemophilia
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Determination of body composition by dual x‐ray absorptiometry in persons with haemophilia Haemophilia (IF 3.0) Pub Date : 2024-09-02 Pia Ransmann, Marius Brühl, Jamil Hmida, Georg Goldmann, Johannes Oldenburg, Anna Christina Strauss, Thorsten Hagedorn, Frank Alexander Schildberg, Thomas Hilberg, Andreas Christian Strauss
BackgroundThere 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
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Differences and similarities in patient‐reported outcomes among men and women with haemophilia Haemophilia (IF 3.0) Pub Date : 2024-08-27 Christine L. Kempton, Sara A. Guasch, Tyler W. Buckner, Shanna Mattis, Stacey A. Fedewa
IntroductionBoth men and women can be diagnosed with haemophilia and the experience with haemophilia may be different between men and women.AimThis study aimed to compare patient‐reported outcomes in men versus women with haemophilia.MethodsThis cross‐sectional study is a post‐hoc analysis of data collected as part of the Haemophilia‐related Distress Questionnaire validation study. Adults aged ≥18
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Comprehensive laboratory assessment of lonoctocog alfa versus octocog alfa in severe haemophilia A Haemophilia (IF 3.0) Pub Date : 2024-08-22 Jens Müller, Thilo Albert, Claudia Klein, Silvia Horneff, Heiko Rühl, Bernd Pötzsch, Georg Goldmann, Natascha Marquardt, Johannes Oldenburg
IntroductionLonoctocog 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.AimTo
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Driving improvement of diagnosis and awareness of heavy menstrual bleeding in women among physicians Haemophilia (IF 3.0) Pub Date : 2024-08-22 Rezan Adbul Kadir, Ahmad Tarawah, Naveen Shridhar, Roshni Kulkarni
IntroductionA 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.AimTo evaluate awareness and perception of heavy menstrual bleeding (HMB) and bleeding disorders among HCPs and women/girls.MethodsA three‐part qualitative study was conducted
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Transitioning patients with severe haemophilia A from emicizumab prophylaxis to valoctocogene roxaparvovec gene therapy: Real‐world clinical experience Haemophilia (IF 3.0) Pub Date : 2024-08-13 Robert Klamroth, Saskia Gottstein
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Bioclinical features of haemophilia patients in Benin in 2023: Towards better care Haemophilia (IF 3.0) Pub Date : 2024-08-09 Tatiana Baglo, Alban Zohoun, Falilatou Agbeille Mohamed, Ferrelle Araba, Bienvenu Houssou, Ludovic Anani, Dorothée Kindé‐Gazard, Awa Touré Fall, Anne Ryman, Yves Gruel, Claire Pouplard
ObjectiveTo analyse the demographic, clinical and laboratory data of Beninese patients with haemophilia.MethodA 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.ResultsA total of 101 patients were studied, 97
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Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys Haemophilia (IF 3.0) Pub Date : 2024-08-09 Kimberley Talbot, Jina Song, John R. Perrier, Shannon Jackson, Ross T. A. MacGillivray, Edward L. G. Pryzdial
IntroductionCongenital 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.AimTo 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.Methods and ResultsA 71‐year‐old female, who had serious
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Sexual functioning in men with haemophilia: Data from the haemophilia in the Netherlands‐6 study Haemophilia (IF 3.0) Pub Date : 2024-08-08 Tessa C. M. van Gastel, Lorynn Teela, Evelien P. Mauser‐Bunschoten, Michiel Coppens, Marjolein Peters, Karin C. J. Fijnvandraat, Lotte Haverman, Samantha C. Gouw
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Acute neuromuscular and perceptual responses to blood flow restriction exercise in adults with severe haemophilia: A pilot study Haemophilia (IF 3.0) Pub Date : 2024-08-05 Daniel C. Ogrezeanu, Joaquín Calatayud, Sergi Rodríguez, Juan J. Carrasco, Eduardo Martinez‐Valdes, José Casaña, Carlos Cruz‐Montecinos, Lars L. Andersen, Per Aagaard, Rubén López‐Bueno, Sofía Pérez‐Alenda
IntroductionNo 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.AimsThe 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
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Diagnosis and management of factor XI alloinhibitors in patients with congenital factor XI deficiency—A large single‐centre experience Haemophilia (IF 3.0) Pub Date : 2024-07-23 Kirollos Salah Kamel, Anne Riddell, Bilal Jradeh, Ewa Jaslowska, Keith Gomez
IntroductionFactor (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 (<20 IU/dL) upon exposure to plasma‐based products. We report our experience of a
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Review of interventions and effectiveness for heavy menstrual bleeding in women with moderate and severe von Willebrand disease Haemophilia (IF 3.0) Pub Date : 2024-07-22 Ozlem Turan, Keith Gomez, Rezan Abdul Kadir
IntroductionWomen with VWD have an increased risk of gynaecological complications due to haemostatic challenges of menstruation.AimReview gynecological bleeding symptoms and their management in women with moderate‐severe VWD.Materials and MethodsRetrospective cohort analysis of prospectively collected data for women with moderate and severe VWD attending a joint multidisciplinary clinic between January
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Application of the PECARN head trauma rule to patients with haemophilia in the paediatric emergency department: A 15‐year retrospective study Haemophilia (IF 3.0) Pub Date : 2024-07-22 Jordanna H. Koppel, Sarina Levy‐Mendelovich, Assaf A. Barg, Tami Brutman Barazani, Shoham Baruch, Oren Feldman
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Multiyear, real‐world, retrospective cohort study using a patient‐centric approach to evaluate the burden of haemophilia B in the United States Haemophilia (IF 3.0) Pub Date : 2024-07-22 Arianna Burton, Yong Chen, Priya Patel, Jose Alvir, Darren Kailung Jeng, Anna Stachel Kane, Jiayin Xue, Emily Cibelli, Patrick F. Fogarty
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Efficacy of a 1:1 ratio VWF/FVIII concentrate in patients with von Willebrand disease Haemophilia (IF 3.0) Pub Date : 2024-07-16 Geoffrey Z. L. Kuppens, Kathelijn Fischer, Karin P. M. van Galen, Eduard J. van Beers, Paul R. Van der Valk, Idske C. L. Kremer Hovinga, Lize F. D. van Vulpen, Roger E. G. Schutgens
IntroductionPatients with von Willebrand disease (VWD) require administration of von Willebrand factor (VWF) concentrates peri‐operatively. Concerns about FVIII accumulation after repetitive injections of a 1:1 ratio VWF/FVIII clotting factor concentrate (CFC) led this study to explore the recovery and FVIII accumulation over time.MethodsThis monocentre study examined patients with VWD receiving perioperative
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Moving towards Normalization of haemostasis and health equity: Evolving treatment goals for haemophilia A Haemophilia (IF 3.0) Pub Date : 2024-07-11 Pål André Holme, Jan Blatný, Pratima Chowdary, Riitta Lassila, Niamh O'Connell, Cédric Hermans, María Teresa Álvarez Román, Claude Négrier, Antonio Coppola, Johannes Oldenburg
BackgroundTreatment options for people with haemophilia are evolving at a rapid pace and a range of prophylactic treatment options using various technologies are currently available, each with their own distinct safety and efficacy profile.Treatment goalsThe access to replacement therapy and prophylaxis has driven a dramatic reduction in mortality and resultant increase in life expectancy. Beyond this
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A clinical practice guideline for primary care physiotherapy in patients with haemophilia. Haemophilia (IF 3.0) Pub Date : 2024-07-10 Johan Blokzijl,Martijn F Pisters,Magnus Aspdahl,Wypke de Boer,Ruth Elise Dybvik Matlary,Danielle Douma-van Riet,Piet de Kleijn,Sébastien Lobet,Paula Loughnane,Paul McLaughlin,Melanie Bladen,Sheila Roche,David Stephensen,Leo van Vlimmeren,Lize F D van Vulpen,Merel A Timmer,
INTRODUCTION As a result of centralisation of haemophilia care to a limited number of intramural settings, many persons with haemophilia have to travel long distances to attend their haemophilia specialised treatment centre. However, regular physiotherapy treatment can be provided by primary care physiotherapists in the person's own region. Due to the rarity of the disease most primary care physiotherapists
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Recombinant FVIII replacement products for haemophilia A: An updated valuation by indirect comparison measuring area under the curve Haemophilia (IF 3.0) Pub Date : 2024-07-10 Sofie Persson, Adam Fridhammar, Katarina Steen Carlsson, Erik Berntorp
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Valoctocogene roxaparvovec gene therapy provides durable haemostatic control for up to 7 years for haemophilia A Haemophilia (IF 3.0) Pub Date : 2024-07-08 Emily Symington, Savita Rangarajan, Will Lester, Bella Madan, Glenn F. Pierce, Priyanka Raheja, Carolyn Millar, Dane Osmond, Mingjin Li, Tara M. Robinson
IntroductionValoctocogene roxaparvovec is an adeno‐associated virus vector serotype 5 (AAV5)‐mediated gene therapy approved for severe haemophilia A (HA).AimTo report the safety and efficacy of valoctocogene roxaparvovec 7 years after dosing in a phase 1/2 clinical study (NCT02576795).MethodsMales ≥18 years with severe HA (factor VIII [FVIII] ≤1 international unit [IU]/dL) who were previously receiving
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Real world management of individuals with severe FXI deficiency and its impact on clinical outcomes: Experience from a haemophilia treatment centre Haemophilia (IF 3.0) Pub Date : 2024-07-02 S Julia Wu, Nicholas J. Cacciola‐Price, Ilene Goldberg, Maria T. DeSancho
IntroductionThe management of Factor XI deficiency is challenged by a variable association between FXI level and bleeding phenotype. Additionally, there is scarce data describing management strategies and their outcomes, specifically bleeding, thrombosis, and other complications.AimsTo evaluate bleeding, thrombosis, and other complications in individuals with severe FXI deficiency seen in our comprehensive
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Acquired haemophilia A in Finland: A nationwide study of incidence, treatment and outcomes Haemophilia (IF 3.0) Pub Date : 2024-06-28 Vuokko Nummi, Leena Hiltunen, Timea Szanto, Eira Poikonen, Anna‐Elina Lehtinen
IntroductionAcquired haemophilia A (AHA) is a bleeding disorder caused by autoantibody development against factor VIII (FVIII). Studies on AHA have mainly focused on patients treated at specialist centres.AimTo determine the incidence, clinical characteristics and outcomes of AHA in an unselected population‐based patient cohort from Finland.MethodsThis retrospective observational cohort comprised all
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A qualitative study on the perioperative experiences and demands of haemophilic arthropathy patients undergoing total joint replacement Haemophilia (IF 3.0) Pub Date : 2024-06-25 Qian Su, Yashuang Shao, Yunchun Bao, Yanan Kan, Bainv Wu, Fuying Ye
IntroductionTotal joint replacement is the optimal treatment option for patients with severe haemophilic arthritis. Current research emphasizes patient‐reported outcomes as a vital measure for evaluating surgical outcomes and patient satisfaction. Nevertheless, very limited information about the subjective experience of perioperative haemophiliacs in the literature, highlighting the need for exploration
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Minimal interference of concizumab with standard clinical coagulation laboratory assays – An in vitro study Haemophilia (IF 3.0) Pub Date : 2024-06-25 Cecilia Augustsson, Karin Strandberg, Marianne Kjalke
IntroductionNon‐factor replacement therapies are emerging as prophylactic treatment options in haemophilia A or B (HA/HB) with and without inhibitors. Concizumab is an anti‐tissue factor pathway inhibitor (TFPI) monoclonal antibody preventing factor (F)Xa inhibition and enhancing thrombin generation. Based on experience with other non‐factor therapies and extended half‐life products, there is a focus
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Emicizumab plasma levels after accelerated saturation in acquired haemophilia A Haemophilia (IF 3.0) Pub Date : 2024-06-25 Tristan Kloeter, Maren Keller, Michael Metze, Sirak Petros, Christian Pfrepper
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Identifying hemophilia B carriers: Utility of aPTT, factor IX levels and ratios of factor IX to other Vitamin K dependent factors Haemophilia (IF 3.0) Pub Date : 2024-06-25 Michael Shu, Caroline Malcolmson, Alessandra Bosch, Teodora Markovic, Cindy Wakefield, Vanessa Bouskill, Manuel Carcao
IntroductionDiagnosing hemophilia B (HB) carrier status is important to manage bleeding in carriers and to prevent bleeding in potential offspring. Without a family history of hemophilia, diagnosing HB carrier status is challenging. Genetic testing is the gold‐standard, however it is reserved for individuals with a high suspicion of carrier status.AimsTo describe the distribution of activated partial
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Accuracy and clinical role of digital templating for total knee arthroplasty performed on haemophilic knees Haemophilia (IF 3.0) Pub Date : 2024-06-21 Arman Vahabi, Erdem Er, Elcil Kaya Biçer, Fahri Şahin, Kaan Kavakli, Semih Aydoğdu
IntroductionIn total knee arthroplasty (TKA), choosing the correct implant size is important. There is lack of data on accuracy of templating on haemophilic knees. Our aim was to test the accuracy of 2D digital templating for TKA on haemophilic arthropathy (HA) of knee.Materials and MethodsTKAs performed on HA between January 2011 and January 2022 were screened. Osteoarthritis (OA) group was created
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Real-world experience of rIX-FP prophylaxis at dosing intervals of 14 days or more in adult patients with haemophilia B in Italy - Results from IDEAL Part B. Haemophilia (IF 3.0) Pub Date : 2024-06-20 Antonio Coppola,Flora Peyvandi,Laura Banov,Dorina Cultrera,Maurizio Margaglione,Alberto Tosetto,Lelia Valdrè,Irene Schiavetti,Anna Loraschi,Giancarlo Castaman,
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A case of bruising and joint hypermobility: The need to consider genetic testing for platelet disorders. Haemophilia (IF 3.0) Pub Date : 2024-06-16 Divyaswathi Citla-Sridhar,Jared Canonigo,Shelley E Crary
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Reduced doses of emicizumab achieve good efficacy: Results from a national-wide multicentre real-world study in China. Haemophilia (IF 3.0) Pub Date : 2024-06-09 Yuan Xu,Ying Wang,Runhui Wu,Changcheng Zheng,Li Zhang,Weiqun Xu,Xiaoqin Feng,Hua Wang,Xiangshan Cao,Liya He,Tianyang Xue,Mingwei Jin,Bingshou Xie,Jing Ling,Lirong Sun,Rui Su,Hongbo Cheng,Yongjun Fang,Man-Chiu Poon,Wei Liu,Lei Zhang,Feng Xue,Renchi Yang
INTRODUCTION Reduced doses of emicizumab improve the affordability among patients in developing countries. However, the relationship between variant dose selection and efficacy in the real world of China is still unclear. AIM This study aimed to investigate the efficacy and safety of emicizumab especially in those on reduced dose regimens in a real-world setting. METHODS We carried out a multicentre
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Comparison of the kinematic analysis of indoor and outdoor gait in people with haemophilia and total knee replacement. Haemophilia (IF 3.0) Pub Date : 2024-06-09 Carlos Cruz-Montecinos,Christ Devia,Maximiliano Barahona,Hachi Manzur,Jorge Toledo
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Effects of resistance training on muscle strength in adults with haemophilia: A systematic review and meta-analysis. Haemophilia (IF 3.0) Pub Date : 2024-06-06 Rodrigo Núñez-Cortés,Sofía Pérez-Alenda,Joaquín Calatayud,Verónica Soto,Ronei S Pinto,Lars Louis Andersen,Carlos Cruz-Montecinos
INTRODUCTION Although resistance training is frequently prescribed for people with haemophilia (PWH), no previous meta-analyses have quantified the effect of this intervention on muscle strength, nor the implications of the intervention's modality and duration. AIM (1) To determine the effects of resistance training on muscle strength in adults with haemophilia; (2) To determine the most effective
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Functional clinical motor performance tests to assess potential fall risks in patients with haemophilia: A case-control study. Haemophilia (IF 3.0) Pub Date : 2024-06-04 Fabian Tomschi,Marius Brühl,Alexander Schmidt,Pia Ransmann,Andreas C Strauss,Thomas Hilberg
INTRODUCTION Patients with haemophilia (PwH) are at increased risk of falls due to haemophilic arthropathy. Yet, studies on clinical tests associated with the risk of falling are scarce in PwH. AIMS (1) To evaluate the feasibility of different clinical motor performance tests associated with the risk of falling in PwH; (2) to evaluate PwH's performance of these tests compared to a control group; (3)
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Self-conducted sonographic monitoring of the knee in patients with haemophilia-A feasibility study. Haemophilia (IF 3.0) Pub Date : 2024-06-02 Anna Christina Strauss,Natascha Marquardt,Johannes Oldenburg,Claus Christian Pieper,Ulrike Attenberger,Jamil Hmida,Charlotte Rommelspacher,Sebastian Koob,Andreas Christian Strauss
INTRODUCTION/AIM To evaluate whether patients with haemophilia (PwH) can be enabled to perform ultrasonography (US) of their knees without supervision according to the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) protocol and whether they would be able to recognize pathologies. METHODS Five PwH (mean age 29.6 years, range 20-48 years) were taught the use of a portable US device
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Oral surgery in people with inherited bleeding disorder: A retrospective study. Haemophilia (IF 3.0) Pub Date : 2024-06-02 Emma Fribourg,Sabine Castet,Mathilde Fénelon,Yoann Huguenin,Jean-Christophe Fricain,Virginie Chuy,Sylvain Catros
INTRODUCTION The objectives were to describe the peri-operative management of people with inherited bleeding disorders in oral surgery and to investigate the association between type of surgery and risk of developing bleeding complications. MATERIALS AND METHODS This retrospective observational study included patients with haemophilia A or B, von Willebrand disease, Glanzmann thrombasthenia or isolated
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Humanistic burden of haemophilia A without inhibitors: A cross-sectional analysis of the HemoLIFE study. Haemophilia (IF 3.0) Pub Date : 2024-06-02 María Teresa Álvarez-Román,Ramiro Jose Nuñez Vazquez,Olga Benitez Hidalgo,Laura Quintana Paris,Laura Entrena Ureña,Francisco Jose Lopez Jaime,Hortensia la De Corte-Rodríguez,María García Dasí,Pau Bosch,María Eva Mingot Castellano,Itziar Guerra Garaeta,Inmaculada Soto-Ortega
AIM To evaluate the impact of haemophilia A without inhibitors on humanistic outcomes in patients and caregivers. Herein, we report a cross-sectional analysis of the baseline data of persons with haemophilia (PWH) participating in the prospective study HEMOLIFE. METHODS These data are part of a prospective, observational, and multicentre study currently being conducted in 20 hospitals in Spain by haematologists
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Limited value of testing for factor XIII and α2‐antiplasmin deficiency in patients with a bleeding disorder of unknown cause Haemophilia (IF 3.0) Pub Date : 2024-05-30 Sander Ariëns, Albert Huisman, Idske C. L. Kremer Hovinga, Rolf T. Urbanus, Karin P. M. van Galen, Lize F. D. van Vulpen, Kathelijn Fischer, Roger E. G. Schutgens
IntroductionIn patients with an increased bleeding tendency, extensive diagnostic blood testing is often performed. When results of tier 1 assays of primary haemostasis are normal, protocols recommend additional testing to rule out rare disorders including coagulation factor XIII (FXIII) and α2‐antiplasmin (α2AP) deficiency.AimTo evaluate the added diagnostic value of FXIII and α2AP levels in patients
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The relevance of MRI findings in joints of persons with haemophilia: Insights from the last decade Haemophilia (IF 3.0) Pub Date : 2024-05-30 Wouter Foppen, Flora H. P. van Leeuwen, Merel A. Timmer, Kathelijn Fischer
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Association between cognitive impairment and functional limitations in everyday life in patients with haemophilia in Hong Kong Haemophilia (IF 3.0) Pub Date : 2024-05-28 Yin Ting Cheung, Chung Tin Ma, Deng Weishang, Henry Hon Wai Lam, Siu Cheung Ling, Kevin Kwok, Chak Ho Li, Chung Yin Ha, Sze Fai Yip, Raymond Siu Ming Wong, Winnie Chiu Wing Chu, Chi Kong Li
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Alleviated bleeding phenotypes in a child with severe haemophilia A and thalassemia disease Haemophilia (IF 3.0) Pub Date : 2024-05-24 Pongpak Pongphitcha, Werasak Sasanakul, Praguywan Kadegasem, Duantida Songdej, Chanin Limwongse, Mattana Amesbutr, Suphaneewan Jaovisidha, Ampaiwan Chuansumrit, Nongnuch Sirachainan
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Inherited coagulation factor VII deficiency in Taiwan: Two novel F7 variants with relevant regional features in 33 patients Haemophilia (IF 3.0) Pub Date : 2024-05-24 Hsuan‐Yu Lin, Ching‐Yeh Lin, Su‐Feng Kuo, Jen‐Shiou Lin, Po‐Te Lin, Ying‐Chih Huang, Han‐Ni Hsieh, Ming‐Ching Shen
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Treatment of thrombotic cardiovascular diseases in people with haemophilia: A Japanese consensus study Haemophilia (IF 3.0) Pub Date : 2024-05-24 Azusa Nagao, Yushi Chikasawa, Yukio Hiroi, Masahiro Ieko
IntroductionCardiovascular diseases (CVD) that require long‐term anticoagulant and antiplatelet therapy presents a problem in people with haemophilia (PWH) who receive factor replacement therapy to reduce bleeding risk. Currently, there are no Japanese guidelines for the management of PWH with CVD.AimTo develop expert guidance on managing CVD in PWH in Japan.MethodsA steering committee of four experts
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Heterozygous large deletion mimicking homozygous substitution in MCFD2 in a patient with combined Factor V and Factor VIII deficiency Haemophilia (IF 3.0) Pub Date : 2024-05-20 Hamdi Rezigue, Pierre Chamouni, Mathilde Fretigny, Virginie Barbay, Véronique Le Cam‐Duchez, Victor Bobee, Simon Lanne, Cecile Dumesnil, Christine Vinciguerra, Pascale Schneider, Yohann Jourdy
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Retrospective chart review of GI bleeding in people with von Willebrand disease Haemophilia (IF 3.0) Pub Date : 2024-05-16 Jonathan C. Roberts, Miguel A. Escobar, Suchitra Acharya, Nina X. Hwang, Michael Wang, Sarah Hale, Sarah Brighton, Peter A. Kouides
IntroductionGastrointestinal (GI) bleeding events (BEs) in von Willebrand disease (VWD) are difficult to diagnose and often recurrent. Limited data from clinical trials has led to lack of consensus on treatment options.AimDescribe current treatments and outcomes for GI BEs in people with VWD.MethodsThis retrospective, observational, multicentre chart review study was conducted from January 2018 through
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Severe haemorrhages leading to a diagnosis of rare bleeding disorder occur at a very young age: A study from the FranceCoag network. Haemophilia (IF 3.0) Pub Date : 2024-05-13 Sandrine Meunier,Annie Harroche,Antoine Rauch,Cécile Bally,Yoann Huguenin,Romain Voltzenlogel,Clémence Tabélé,Hervé Chambost,Martine Balençon,
INTRODUCTION In the context of severe unexplained haemorrhage (SH), it is usual to seek haematological evaluation and investigate for an inherited rare bleeding disorder (IRBD). In such circumstances, appropriate screen can discriminate between IRBD and suspected child abuse. Yet, little information is available about the frequency of SH in the population of patients with IRBD. AIM To collect epidemiologic
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Estimated prophylactic dose required to achieve 3% trough as a function of age and concentrate class in multi‐country severe WAPPS‐Hemo haemophilia patients Haemophilia (IF 3.0) Pub Date : 2024-05-13 Dagmar M. Hajducek, Pierre Chelle, Alfonso Iorio, Emma Iserman, Andrea N. Edginton
IntroductionWeb‐Accessible Population–Pharmacokinetic Service–Haemophilia (WAPPS‐Hemo) data are available to study factor‐concentrate usage, defined as the required weekly dose to achieve a 3% trough (WD3T), across standard and extended half‐life (SHL/EHL) products.AimTo provide baseline usage data including (i) differences across plasma‐derived (pdSHL) versus recombinant (rSHL) products, (ii) SHL
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Spectrum, clinical characteristics and outcome of von Willebrand disease in Oman Haemophilia (IF 3.0) Pub Date : 2024-05-13 Shamsa Alkaabi, Aala Alzidjali, Anil Pathare, Ibrahim Alghaithi, Murtadha Alkhabori, Mohamed Elshinawy, Hanan Fawzy, Taimoora Al Subhi, Noor Elshinawy, Mustafa Wasifuddin, Esraa Abdelhakem, Sharef Al‐Mulaabed, Abdulhakim AlRawas, Yasser Wali
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Assessing joint health in haemophilia patients: The combined value of physical examination and ultrasound imaging Haemophilia (IF 3.0) Pub Date : 2024-05-08 Roberta Gualtierotti, Andrea Giachi, Addolorata Truma, Sara Arcudi, Alessandro Ciavarella, Paolo Bucciarelli, Dario Consonni, Elena Boccalandro, Valentina Begnozzi, Luigi Piero Solimeno, Simona Maria Siboni, Flora Peyvandi
IntroductionEarly diagnosis of joint damage is pivotal in haemophilia to prevent the occurrence and progression of haemophilic arthropathy thus providing optimal personalised management. The haemophilia joint health score version 2.1 (HJHS) is based on a physical examination of the mainly affected joints. Musculoskeletal ultrasound has demonstrated the capability to detect early changes in terms of
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30‐sit‐to‐stand power is a better tool than isometric knee extensor strength to detect motor impairment in people with haemophilic arthropathy Haemophilia (IF 3.0) Pub Date : 2024-05-07 Carlos Cruz‐Montecinos, María Moena‐León, Antonio Durán‐Ovalle, Aracelli Lizama‐Jofré, Verónica Soto, Andrés Oyarzún, Claudio Tapia, Sandro R. Freitas, Ronei S. Pinto, Rodrigo Núñez‐Cortés, Carla Daffunchio
IntroductionRegular assessment of motor impairments is crucial in people with haemophilic arthropathy (PwHA). This study aimed to determine if there are differences in 30‐seconds sit‐to‐stand (30‐STS) power and maximal voluntary isometric contraction (MVIC) of the knee extensors between PwHA and healthy control group (CG). The secondary aims were to investigate the correlation between 30‐STS power
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Development of a Plasminogen Population PK model supporting prophylactic replacement therapy for Plasminogen deficient patients within the WAPPS‐Hemo platform Haemophilia (IF 3.0) Pub Date : 2024-05-03 Pierre Chelle, Dagmar Hajducek, Karen Thibaudeau, Nicholas Hobson, Alfonso Iorio, Amy Shapiro, Andrea Edginton
IntroductionPlasminogen deficiency is an ultra rare disease whose patients may develop ligneous lesions if untreated. Prophylactic replacement therapy with plasma derived plasminogen, Ryplazim, is efficient in treating lesions and could benefit from pharmacokinetic (PK) tailoring.AimThe objectives of this study are to develop, evaluate and integrate into the WAPPS‐Hemo platform a Population PK model
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Preference of treatment characteristics among people with haemophilia or their caregivers, and physicians in the Japanese healthcare environment Haemophilia (IF 3.0) Pub Date : 2024-05-02 Teruhisa Fujii, Masataka Ishimura, Satomi Takao, Ayumi Deguchi
IntroductionStudies of treatment preferences in haemophilia have been conducted in many countries. This study is the first to examine treatment characteristic preferences among people with haemophilia (PWH) and their caregivers, and physicians in Japan.AimTo examine current treatment preferences of PWH and their caregivers, plus those of physicians at haemophilia treatment centres (HTCs) and non‐HTCs
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Shared decision‐making related to treatment of haemophilia: A scoping review of influential factors and available support tools Haemophilia (IF 3.0) Pub Date : 2024-04-30 Haowei (Linda) Sun, Robert J. Klaassen, Dana L. Anger, Ari L. Mendell, Shade Olatunde
IntroductionTreatment selection in haemophilia is increasingly challenging given evolving therapeutic options and the need for individualization. Shared decision‐making (SDM) approaches have recently gained interest, though a synthesis of available studies is lacking.AimA scoping review was conducted to summarize literature reporting on factors impacting treatment SDM in haemophilia and tools or models
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Prophylaxis with emicizumab in children under 12 years old with haemophilia A without inhibitors in Uruguay: National experience Haemophilia (IF 3.0) Pub Date : 2024-04-30 Felipe Lemos, Carlos Petraccia, María Laura Fraga, Ana Laura Casuriaga, Stefani Lutz, Rosario Gómez, Gustavo Giachetto, Beatriz Boggia
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Transitioning from emicizumab prophylaxis to valoctocogene roxaparvovec gene therapy: A simulation study for individuals with severe haemophilia A Haemophilia (IF 3.0) Pub Date : 2024-04-30 Suresh Agarwal, Cedric Hermans, Wolfgang Miesbach, Flora Peyvandi, Robert Sidonio, Dane Osmond, Vanessa Newman, Josh Henshaw, Steven Pipe
IntroductionValoctocogene roxaparvovec, a gene therapy evaluated in the phase 3 GENEr8‐1 trial, supports endogenous factor VIII (FVIII) production to prevent bleeding in people with severe haemophilia A. Individuals receiving emicizumab, an antibody mimicking the function of activated FVIII, were excluded from GENEr8‐1 enrolment since emicizumab was an investigational therapy at the time of trial initiation
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Quality of life of siblings of adolescents with severe haemophilia (FRATHEMO): An ancillary study to the TRANSHEMO project. Haemophilia (IF 3.0) Pub Date : 2024-04-29 Ngoc Anh Thu Nguyen,Pascal Auquier,Any Beltran Anzola,Annie Harroche,Yoann Huguenin,Audrey Hochart,Sandrine Meunier,Birgit Frotscher,Philippe Nguyen,Pascale Schneider,Claire Berger,Aurélien Lebreton,Stéphane Vanderbecken,Emmanuelle De Raucourt,Roseline D'Oiron,Caroline Oudot-Challard,Karine Baumstarck,Mohamed Boucekine,Clémence Tabélé,Natacha Rosso-Delsemme,Thomas Sannié,Nicolas Giraud,Hervé Chambost
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Relationship between plasma tissue Factor Pathway Inhibitor (TFPI) levels, thrombin generation and clinical risk of bleeding in patients with severe haemophilia A or B Haemophilia (IF 3.0) Pub Date : 2024-04-23 Brigitte Tardy‐Poncet, Aurélie Montmartin, Hervé Chambost, Anne Lienhart, Birgit Frotscher, Pierre‐Emmanuel Morange, Céline Falaise, Fanny Collange, Yesim Dargaud, Marie Toussaint‐Hacquard, Laurent Ardillon, Bénédicte Wibaut, Emmanuelle Jeanpierre, Philippe Nguyen, Fabienne Volot, Bernard Tardy
IntroductionBleeding severity in severe haemophilic patients, with low thrombin generation (TG) capacity, can vary widely between patients, possibly reflecting differences in tissue factor pathway inhibitor (TFPI) level.AimTo compare free TFPI (fTFPI) levels in patients with severe haemophilia A (sHA) and severe haemophilia B (sHB) and to investigate in these patients as a whole the relationships between