Abstract Pseudotumour is a rare complication of haemophilia, categorised as osseous or non-osseous (soft tissue) lesions based on anatomic location. The bones most frequently involved are the larger ones; pseudotumours of small bones are rare. Here we present a rare case of pseudotumours of both thumbs in a 10-year-old male with severe haemophilia A, successfully treated with factor replacement therapy. This case highlights the possibility of treating such cases conservatively, but also the need for education to enable early intervention to prevent potential complications that could be life-threatening.
{"title":"Osseous bilateral pseudotumour of the thumb in severe haemophilia A – A case report","authors":"P. Mandal, Rishu Vidhrati, Debasis Gantait","doi":"10.2478/jhp-2022-0005","DOIUrl":"https://doi.org/10.2478/jhp-2022-0005","url":null,"abstract":"Abstract Pseudotumour is a rare complication of haemophilia, categorised as osseous or non-osseous (soft tissue) lesions based on anatomic location. The bones most frequently involved are the larger ones; pseudotumours of small bones are rare. Here we present a rare case of pseudotumours of both thumbs in a 10-year-old male with severe haemophilia A, successfully treated with factor replacement therapy. This case highlights the possibility of treating such cases conservatively, but also the need for education to enable early intervention to prevent potential complications that could be life-threatening.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115196044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. Buckner, N. Daoud, Moses E Miles, Carrie O'Neill, C. Watson, M. Recht
Abstract Background Haemophilia A and B are X-linked inherited bleeding disorders, resulting in the deficiency of clotting factor VIII and IX, respectively. Since the introduction of recombinant clotting factor concentrates in the early 1990s, the major safety concern for haemophilia therapy has been the development of inhibitory antibodies, or inhibitors. Over the recent past, new therapies for the treatment and prevention of bleeding have received regulatory approval or are under study. Objective ‘ATHN 7: A Natural History Cohort Study of the Safety, Effectiveess, and Practice of Treatment for People with Hemophilia is designed to determine the safety of current haemophilia therapies when used for participants with haemophilia with or without inhibitors. Secondarily, ATHN 7 will describe the real-world effectiveness of current therapies by assessing bleeding rate and location, therapy utilisation, adherence, and patient-reported outcomes. Methods This longitudinal, observational cohort study by the American Thrombosis and Hemostasis Network (ATHN) will follow participants with haemophilia with or without inhibitors for four years from the time of enrolment. Each participant is assessed every three months. All data are collected into ATHN Systems. The primary outcome measure is the incidence of safety events as defined by the European Haemophilia Safety Surveillance (EUHASS) programme. Effectiveness will be described based on annualised bleeding rate, therapy utilisation, adherence, and patient-reported outcomes. Conclusion As the first product-agnostic, real-world study of haemophilia therapy in the United States, ATHN 7 collects data to determine current intervention safety and effectiveness. Based on this success, ATHN will continue to collect these data longitudinally through the ATHN Transcends study.
{"title":"Designing ATHN 7: Safety, effectiveness and practice of treatment of people with haemophilia in the United States through a natural history cohort study","authors":"T. Buckner, N. Daoud, Moses E Miles, Carrie O'Neill, C. Watson, M. Recht","doi":"10.2478/jhp-2022-0020","DOIUrl":"https://doi.org/10.2478/jhp-2022-0020","url":null,"abstract":"Abstract Background Haemophilia A and B are X-linked inherited bleeding disorders, resulting in the deficiency of clotting factor VIII and IX, respectively. Since the introduction of recombinant clotting factor concentrates in the early 1990s, the major safety concern for haemophilia therapy has been the development of inhibitory antibodies, or inhibitors. Over the recent past, new therapies for the treatment and prevention of bleeding have received regulatory approval or are under study. Objective ‘ATHN 7: A Natural History Cohort Study of the Safety, Effectiveess, and Practice of Treatment for People with Hemophilia is designed to determine the safety of current haemophilia therapies when used for participants with haemophilia with or without inhibitors. Secondarily, ATHN 7 will describe the real-world effectiveness of current therapies by assessing bleeding rate and location, therapy utilisation, adherence, and patient-reported outcomes. Methods This longitudinal, observational cohort study by the American Thrombosis and Hemostasis Network (ATHN) will follow participants with haemophilia with or without inhibitors for four years from the time of enrolment. Each participant is assessed every three months. All data are collected into ATHN Systems. The primary outcome measure is the incidence of safety events as defined by the European Haemophilia Safety Surveillance (EUHASS) programme. Effectiveness will be described based on annualised bleeding rate, therapy utilisation, adherence, and patient-reported outcomes. Conclusion As the first product-agnostic, real-world study of haemophilia therapy in the United States, ATHN 7 collects data to determine current intervention safety and effectiveness. Based on this success, ATHN will continue to collect these data longitudinally through the ATHN Transcends study.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125235514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Strike, Anthony K. C. Chan, M. Maly, N. Stein, Lynne Farrell, P. Solomon
Abstract Background Haemophilia treatment centres (HTCs) around the world are increasingly adopting point-of-care ultrasonography (POCUS) for the assessment of acute haemarthrosis and to monitor joint health. POCUS is in large part administered by physiotherapists in most comprehensive care teams. Appropriate implementation of haemophilia-specific POCUS requires an educational foundation and training to ensure competency and optimal outcomes. Inter-professional agreement and evaluation of image quality are important measures of competency and acceptable use of POCUS. Aims To determine the level of agreement between physiotherapist and sonographer-performed POCUS scans and to compare the quality of the ultrasound images obtained by physiotherapists to those obtained by the sonographer. Methods This single blind, prospective, pilot study recruited patients with haemophilia A and B who presented to clinic with a suspected acute haemarthrosis of the elbow, knee, or ankle and consented to participate. POCUS scans were performed by one trained physiotherapist and one sonographer in the haemophilia ambulatory clinic at patient presentation, one-week follow-up, and two-week follow-up. The physiotherapist participated in formal training consisting of 12 hours of online didactic modules and a two-day, 12-hour practical module with instructor-led hands-on training. For the primary objective, the outcome of interest was the binary decision on the presence or absence of blood within the joint. For the secondary objective, image quality was evaluated by the radiologist post hoc and rated as optimal, acceptable, or sub-optimal. Results Thirteen participants with haemophilia consented to the study. The results indicated an excellent level of agreement (k=0.80) with an observed agreement of 91.7%, a specific positive agreement of 94.1%, and a specific negative agreement of 85.7% for the detection of blood within the joint space. The quality of the ultrasound images obtained by the physiotherapist were rated by the radiologist as optimal (84.6%) and acceptable (15.4%). None of the images were rated as sub-optimal. Conclusion Optimal image quality and a high level of agreement between the physiotherapist and sonographer-performed POCUS for the assessment of acute hemarthrosis in people with haemophilia A and B was observed. These results suggest that, with a short formal training programme, physiotherapists can be proficient in the performance, acquisition, and interpretation of POCUS scans in patients with haemophilia.
{"title":"Point of care ultrasonography in patients with haemophilia and acute haemarthrosis: a physiotherapist and sonographer inter-professional agreement pilot study","authors":"K. Strike, Anthony K. C. Chan, M. Maly, N. Stein, Lynne Farrell, P. Solomon","doi":"10.2478/jhp-2022-0008","DOIUrl":"https://doi.org/10.2478/jhp-2022-0008","url":null,"abstract":"Abstract Background Haemophilia treatment centres (HTCs) around the world are increasingly adopting point-of-care ultrasonography (POCUS) for the assessment of acute haemarthrosis and to monitor joint health. POCUS is in large part administered by physiotherapists in most comprehensive care teams. Appropriate implementation of haemophilia-specific POCUS requires an educational foundation and training to ensure competency and optimal outcomes. Inter-professional agreement and evaluation of image quality are important measures of competency and acceptable use of POCUS. Aims To determine the level of agreement between physiotherapist and sonographer-performed POCUS scans and to compare the quality of the ultrasound images obtained by physiotherapists to those obtained by the sonographer. Methods This single blind, prospective, pilot study recruited patients with haemophilia A and B who presented to clinic with a suspected acute haemarthrosis of the elbow, knee, or ankle and consented to participate. POCUS scans were performed by one trained physiotherapist and one sonographer in the haemophilia ambulatory clinic at patient presentation, one-week follow-up, and two-week follow-up. The physiotherapist participated in formal training consisting of 12 hours of online didactic modules and a two-day, 12-hour practical module with instructor-led hands-on training. For the primary objective, the outcome of interest was the binary decision on the presence or absence of blood within the joint. For the secondary objective, image quality was evaluated by the radiologist post hoc and rated as optimal, acceptable, or sub-optimal. Results Thirteen participants with haemophilia consented to the study. The results indicated an excellent level of agreement (k=0.80) with an observed agreement of 91.7%, a specific positive agreement of 94.1%, and a specific negative agreement of 85.7% for the detection of blood within the joint space. The quality of the ultrasound images obtained by the physiotherapist were rated by the radiologist as optimal (84.6%) and acceptable (15.4%). None of the images were rated as sub-optimal. Conclusion Optimal image quality and a high level of agreement between the physiotherapist and sonographer-performed POCUS for the assessment of acute hemarthrosis in people with haemophilia A and B was observed. These results suggest that, with a short formal training programme, physiotherapists can be proficient in the performance, acquisition, and interpretation of POCUS scans in patients with haemophilia.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128902412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Systematic structures to understand the incidence and prevalence of bleeding disorders in women and girls are in place in some countries and becoming more robust, though there is still room for improvement. More co-ordinated data gathering is providing new insights into the diagnosis and treatment of girls with bleeding disorders and demonstrating clear deficits in care compared with boys that can have important implications around puberty. Recognition and recording of female symptoms such as heavy menstrual bleeding (HMB) may lag behind that of symptoms with a greater perception bias, such as joint bleeds, and affect quality of life and wellbeing. Addressing inequity of symptom recognition and recording is needed to drive appropriate and timely treatment interventions. New symptom tools can empower patients to differentiate normal from abnormal bleeding so they can seek and receive help. Greater awareness among health care professionals (HCPs) of women's bleeding disorders and the establishment of referral networks for diagnosis and treatment, with multidisciplinary assessment and follow-up, are still needed.
{"title":"Monitoring to improve quality of life in women with bleeding disorders","authors":"D. Noone, R. d’Oiron","doi":"10.2478/jhp-2022-0015","DOIUrl":"https://doi.org/10.2478/jhp-2022-0015","url":null,"abstract":"Abstract Systematic structures to understand the incidence and prevalence of bleeding disorders in women and girls are in place in some countries and becoming more robust, though there is still room for improvement. More co-ordinated data gathering is providing new insights into the diagnosis and treatment of girls with bleeding disorders and demonstrating clear deficits in care compared with boys that can have important implications around puberty. Recognition and recording of female symptoms such as heavy menstrual bleeding (HMB) may lag behind that of symptoms with a greater perception bias, such as joint bleeds, and affect quality of life and wellbeing. Addressing inequity of symptom recognition and recording is needed to drive appropriate and timely treatment interventions. New symptom tools can empower patients to differentiate normal from abnormal bleeding so they can seek and receive help. Greater awareness among health care professionals (HCPs) of women's bleeding disorders and the establishment of referral networks for diagnosis and treatment, with multidisciplinary assessment and follow-up, are still needed.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115739617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D. Noone, J. Astermark, B. O’Mahony, F. Peyvandi, K. Khair, Luke Pembroke, Kathryn Jenner
Abstract As gene therapy for haemophilia is now licensed in Europe, and the hub and spoke approach is widely promoted for its delivery and follow-up, it is essential that people with haemophilia (PwH) who are eligible and opt to have this treatment are enabled to obtain the maximum benefit. Ensuring the pathway that makes up the patient gene therapy journey is effective is key to achieving this. EAHAD and the EHC have recommended that gene therapy is delivered through a hub and spoke model of care to ensure that the right expertise is available throughout the various stages of the haemophilia gene therapy journey. Effective communication between hub and spoke centres is essential, and the processes that make up the journey must be understood clearly by both PwH and the multidisciplinary teams delivering their care. The starting point for this is to take each step of the gene therapy journey in turn – through initial engagement, eligibility, detailed patient education, informed decision-making, dosing, and follow up in year 1, year 2 and beyond – and to consider and identify the roles and responsibilities of the patient, the hub centre and the spoke centre. It is important that the expectations of both health care practitioners (HCPs) and patients are aligned with the key challenges and goals associated with each step. Understanding these from the patient point of view will help to ensure that the individual PwH treading this path receive the information, guidance and support they need from hub and spoke HCPs throughout their journey, and that they, as the patient, remain the focus of care. Visualising the journey may help to explain the gene therapy clinical pathway to PwH and could provide a useful tool for HCPs in spoke centres. Visualisation may also serve as a tool for facilitating discussion, not only in terms of initial engagement and education, but throughout the haemophilia gene therapy journey.
{"title":"The journey of gene therapy in haemophilia – putting the patient at the centre of the hub and spoke model","authors":"D. Noone, J. Astermark, B. O’Mahony, F. Peyvandi, K. Khair, Luke Pembroke, Kathryn Jenner","doi":"10.2478/jhp-2022-0021","DOIUrl":"https://doi.org/10.2478/jhp-2022-0021","url":null,"abstract":"Abstract As gene therapy for haemophilia is now licensed in Europe, and the hub and spoke approach is widely promoted for its delivery and follow-up, it is essential that people with haemophilia (PwH) who are eligible and opt to have this treatment are enabled to obtain the maximum benefit. Ensuring the pathway that makes up the patient gene therapy journey is effective is key to achieving this. EAHAD and the EHC have recommended that gene therapy is delivered through a hub and spoke model of care to ensure that the right expertise is available throughout the various stages of the haemophilia gene therapy journey. Effective communication between hub and spoke centres is essential, and the processes that make up the journey must be understood clearly by both PwH and the multidisciplinary teams delivering their care. The starting point for this is to take each step of the gene therapy journey in turn – through initial engagement, eligibility, detailed patient education, informed decision-making, dosing, and follow up in year 1, year 2 and beyond – and to consider and identify the roles and responsibilities of the patient, the hub centre and the spoke centre. It is important that the expectations of both health care practitioners (HCPs) and patients are aligned with the key challenges and goals associated with each step. Understanding these from the patient point of view will help to ensure that the individual PwH treading this path receive the information, guidance and support they need from hub and spoke HCPs throughout their journey, and that they, as the patient, remain the focus of care. Visualising the journey may help to explain the gene therapy clinical pathway to PwH and could provide a useful tool for HCPs in spoke centres. Visualisation may also serve as a tool for facilitating discussion, not only in terms of initial engagement and education, but throughout the haemophilia gene therapy journey.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115138941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Maintaining good musculoskeletal health, including good oral health, is as important for women with bleeding disorders (WBD) as it is for men. Many people with bleeding disorders ignore bleeding from their gums, believing it to be part of their condition. However, it may be a sign of periodontal disease, which left untreated can lead to accelerated tooth loss and infection, adversely affecting overall health. A good diet and access to good dental care from childhood are important to maintaining good oral health in WBD. Joint bleeding and degeneration are not limited to people with more severe forms of haemophilia; joint-related diagnoses have been shown to be twice as common among haemophilia carriers and women with mild haemophilia than in the general population. Women with type 3 von Willebrand disease experience comparable joint outcomes to younger intensively treated patients with severe haemophilia. Neither gum nor joint bleeds should ever be considered normal, as both can be treated to avoid progressive disease. Dental and joint specialists and physiotherapists should work closely with haemophilia teams to ensure optimal care for long-term preservation of musculoskeletal health.
{"title":"Focus on musculoskeletal health in women with bleeding disorders","authors":"A. Dougall, L. Frenzel","doi":"10.2478/jhp-2022-0017","DOIUrl":"https://doi.org/10.2478/jhp-2022-0017","url":null,"abstract":"Abstract Maintaining good musculoskeletal health, including good oral health, is as important for women with bleeding disorders (WBD) as it is for men. Many people with bleeding disorders ignore bleeding from their gums, believing it to be part of their condition. However, it may be a sign of periodontal disease, which left untreated can lead to accelerated tooth loss and infection, adversely affecting overall health. A good diet and access to good dental care from childhood are important to maintaining good oral health in WBD. Joint bleeding and degeneration are not limited to people with more severe forms of haemophilia; joint-related diagnoses have been shown to be twice as common among haemophilia carriers and women with mild haemophilia than in the general population. Women with type 3 von Willebrand disease experience comparable joint outcomes to younger intensively treated patients with severe haemophilia. Neither gum nor joint bleeds should ever be considered normal, as both can be treated to avoid progressive disease. Dental and joint specialists and physiotherapists should work closely with haemophilia teams to ensure optimal care for long-term preservation of musculoskeletal health.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"108 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127942056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J. O’Hara, D. Noone, P. Kritikou, K. Myren, S. Chaplin, D. Hart
Abstract Background Increasing survival among people with haemophilia means that more individuals are at risk of developing age-related morbidity. Little is known about morbidity and health-related quality of life (HRQoL) in different age groups within a single large population of people with haemophilia. Aim This study aimed to explore the association between increasing age and comorbidity among people with haemophilia and to compare their HRQoL with that of a sample of the general population in England. Methods The prevalence of comorbidity recorded in medical records and HRQoL assessed by EQ-5D were compared by age group in participants in the Cost of Haemophilia in Europe: A Socioeconomic Survey study (CHESS) in Europe. HRQoL was compared with that of a sample of the general population taken from the 2012 Health Survey for England (HSE). Results Younger adults in CHESS were more likely to have received prophylaxis from an early age. The mean number of affected joints in younger adults was 1.0; participants aged 41–50 (1.25) and 51–60 years (1.41) had the highest mean number of affected joints. The prevalence of comorbidity was 36% in patients aged 18–30, 61% in 31–60-year-olds and 68% in those aged 61+. HRQoL impairment in young adults with haemophilia was comparable with that in the HSE population aged over 60. Conclusions Older people with haemophilia have impaired quality of life compared with younger adults and an increasing prevalence of several age-related disorders affecting mental health and cardiovascular and bone health. Young adults with haemophilia report impaired HRQoL comparable with that in a general population aged 61+.
{"title":"New challenges for an expanding generation of older persons with haemophilia","authors":"J. O’Hara, D. Noone, P. Kritikou, K. Myren, S. Chaplin, D. Hart","doi":"10.2478/jhp-2022-0001","DOIUrl":"https://doi.org/10.2478/jhp-2022-0001","url":null,"abstract":"Abstract Background Increasing survival among people with haemophilia means that more individuals are at risk of developing age-related morbidity. Little is known about morbidity and health-related quality of life (HRQoL) in different age groups within a single large population of people with haemophilia. Aim This study aimed to explore the association between increasing age and comorbidity among people with haemophilia and to compare their HRQoL with that of a sample of the general population in England. Methods The prevalence of comorbidity recorded in medical records and HRQoL assessed by EQ-5D were compared by age group in participants in the Cost of Haemophilia in Europe: A Socioeconomic Survey study (CHESS) in Europe. HRQoL was compared with that of a sample of the general population taken from the 2012 Health Survey for England (HSE). Results Younger adults in CHESS were more likely to have received prophylaxis from an early age. The mean number of affected joints in younger adults was 1.0; participants aged 41–50 (1.25) and 51–60 years (1.41) had the highest mean number of affected joints. The prevalence of comorbidity was 36% in patients aged 18–30, 61% in 31–60-year-olds and 68% in those aged 61+. HRQoL impairment in young adults with haemophilia was comparable with that in the HSE population aged over 60. Conclusions Older people with haemophilia have impaired quality of life compared with younger adults and an increasing prevalence of several age-related disorders affecting mental health and cardiovascular and bone health. Young adults with haemophilia report impaired HRQoL comparable with that in a general population aged 61+.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"176 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134482077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Raising awareness that bleeding disorders affect women – not just men – is a key part of advocacy initiatives around the world. The European Haemophilia Consortium (EHC) and national patient organisations have run successful campaigns, with a wealth of information for women and girls with bleeding disorders and non-specialist healthcare professionals, including bleeding assessment tools, patient stories, blogs and videos. Some hold conference sessions and webinars devoted to bleeding disorders in women. By drawing on ideas and resources already available, patient organisations and other groups for women with bleeding disorders can fast-forward their advocacy plans, improve awareness and accelerate change.
{"title":"Advocacy worldwide for women with bleeding disorders","authors":"Evelyn Grimberg","doi":"10.2478/jhp-2022-0019","DOIUrl":"https://doi.org/10.2478/jhp-2022-0019","url":null,"abstract":"Abstract Raising awareness that bleeding disorders affect women – not just men – is a key part of advocacy initiatives around the world. The European Haemophilia Consortium (EHC) and national patient organisations have run successful campaigns, with a wealth of information for women and girls with bleeding disorders and non-specialist healthcare professionals, including bleeding assessment tools, patient stories, blogs and videos. Some hold conference sessions and webinars devoted to bleeding disorders in women. By drawing on ideas and resources already available, patient organisations and other groups for women with bleeding disorders can fast-forward their advocacy plans, improve awareness and accelerate change.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115697179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Introduction The hub and spoke model can deliver high quality care to a scattered population through centres of expertise supported by a network of several smaller geographically dispersed centres. This approach is now being proposed to provide care for people with rare diseases, and in particular for rare bleeding disorders. To ensure that specialised treatments such as gene therapy can be delivered effectively using the hub and spoke model of care, it is important to understand the challenges that the model presents for all stakeholders. Identifying key challenges As part of the EHC Think Tank Workstream on Hub and Spoke Treatment Models, 14 stakeholders representing health care providers, patient groups, research and industry met in November 2021 to identify challenges in the design, implementation and sustainable operation of hub and spoke models, and to propose ways in which resources could be allocated and collaboration fostered, from each of their stakeholder perspectives. Five key challenges were identified: 1. How future care might be re-envisioned; 2. Which agencies and stakeholders should determine which centres become hubs or spokes, and how this process might be carried out; 3. Identifying the criteria that will define a hub and spoke, and the roles of various stakeholders in that process; 4. How resources might be allocated; 5. How hubs and spokes will collaborate to ensure that patients' needs are prioritised. This model may also be recommended for treatment with gene therapy in certain rare diseases. Summary Hub and spoke models should be implemented by establishing criteria for hub and spoke status, prioritising patients in service reorganisation and in the care pathway, and considering the impact of new service models on current arrangements. The next step is to vet the challenges identified by this workstream with a broader group of external stakeholders and bring their perspectives back for consideration.
轮辐模式可以通过由几个较小的地理分散中心组成的网络支持的专业知识中心，为分散的人口提供高质量的护理。目前正提议采用这种方法为患有罕见疾病，特别是罕见出血性疾病的人提供护理。为了确保基因治疗等专门治疗能够有效地使用轮辐式护理模式，重要的是要了解该模式给所有利益相关者带来的挑战。作为EHC智库Hub and Spoke治疗模式工作流程的一部分，代表医疗保健提供者、患者群体、研究和行业的14名利益相关者于2021年11月举行会议，以确定Hub and Spoke模型的设计、实施和可持续运营方面的挑战，并从每个利益相关者的角度提出分配资源和促进协作的方法。确定了五个主要挑战:1。如何重新设想未来的护理;2. 哪些机构和利益攸关方应决定哪些中心成为枢纽或辐条，以及如何开展这一进程;3.确定将定义中心和辐条的标准，以及在此过程中各种利益相关者的角色;4. 如何分配资源;5. 中心和辐条如何协作以确保优先考虑患者的需求。该模型也可推荐用于某些罕见病的基因治疗。枢纽和轮辐模式应通过建立枢纽和轮辐地位标准，在服务重组和护理途径中优先考虑患者，并考虑新服务模式对当前安排的影响来实施。下一步是与更广泛的外部利益相关者一起审查该工作流程确定的挑战，并将他们的观点带回来考虑。
{"title":"Key challenges for hub and spoke models of care – A report from the 1st workshop of the EHC Think Tank on Hub and Spoke Treatment Models","authors":"A. Bok, D. Noone, Naja Skouw-Rasmussen","doi":"10.2478/jhp-2022-0003","DOIUrl":"https://doi.org/10.2478/jhp-2022-0003","url":null,"abstract":"Abstract Introduction The hub and spoke model can deliver high quality care to a scattered population through centres of expertise supported by a network of several smaller geographically dispersed centres. This approach is now being proposed to provide care for people with rare diseases, and in particular for rare bleeding disorders. To ensure that specialised treatments such as gene therapy can be delivered effectively using the hub and spoke model of care, it is important to understand the challenges that the model presents for all stakeholders. Identifying key challenges As part of the EHC Think Tank Workstream on Hub and Spoke Treatment Models, 14 stakeholders representing health care providers, patient groups, research and industry met in November 2021 to identify challenges in the design, implementation and sustainable operation of hub and spoke models, and to propose ways in which resources could be allocated and collaboration fostered, from each of their stakeholder perspectives. Five key challenges were identified: 1. How future care might be re-envisioned; 2. Which agencies and stakeholders should determine which centres become hubs or spokes, and how this process might be carried out; 3. Identifying the criteria that will define a hub and spoke, and the roles of various stakeholders in that process; 4. How resources might be allocated; 5. How hubs and spokes will collaborate to ensure that patients' needs are prioritised. This model may also be recommended for treatment with gene therapy in certain rare diseases. Summary Hub and spoke models should be implemented by establishing criteria for hub and spoke status, prioritising patients in service reorganisation and in the care pathway, and considering the impact of new service models on current arrangements. The next step is to vet the challenges identified by this workstream with a broader group of external stakeholders and bring their perspectives back for consideration.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129411209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Das, Anupam Dutta, Ramanan Bbv, Sanchu TK Sreeraj
Abstract Haemophilia is an inherited X-linked bleeding disorder characterised by a deficiency or absence of clotting factor VIII (haemophilia A) or IX (haemophilia B), which can cause musculoskeletal bleeding. The standard treatment for haemophilia is with factor concentrates to replace the missing or deficient clotting factor. However, there is a risk that the immune system develops antibodies against the exogenous factor, known as inhibitors. Managing patients with haemophilia and inhibitors who develop bleeding in unusual sites can be challenging for the treating physician. Here, we present a rare case of patient with severe haemophilia A who was diagnosed with inhibitors after developing bleeding in the left posterior chest wall (extra pleural haematoma). The patient was successfully managed with activated prothrombin complex concentrate (aPCC) (FEIBA: FVIII inhibitor bypassing activity; Baxter AG), and the pain and swelling gradually resolved over three weeks. This case emphasises the importance of clinical suspicion of inhibitor formation in a patient already diagnosed with haemophilia A presenting with unusual bleeding that does not respond to standard treatment.
{"title":"Treatment of a patient with severe haemophilia A presenting with left extra pleural haematoma and diagnosed with inhibitors – case report","authors":"A. Das, Anupam Dutta, Ramanan Bbv, Sanchu TK Sreeraj","doi":"10.2478/jhp-2022-0010","DOIUrl":"https://doi.org/10.2478/jhp-2022-0010","url":null,"abstract":"Abstract Haemophilia is an inherited X-linked bleeding disorder characterised by a deficiency or absence of clotting factor VIII (haemophilia A) or IX (haemophilia B), which can cause musculoskeletal bleeding. The standard treatment for haemophilia is with factor concentrates to replace the missing or deficient clotting factor. However, there is a risk that the immune system develops antibodies against the exogenous factor, known as inhibitors. Managing patients with haemophilia and inhibitors who develop bleeding in unusual sites can be challenging for the treating physician. Here, we present a rare case of patient with severe haemophilia A who was diagnosed with inhibitors after developing bleeding in the left posterior chest wall (extra pleural haematoma). The patient was successfully managed with activated prothrombin complex concentrate (aPCC) (FEIBA: FVIII inhibitor bypassing activity; Baxter AG), and the pain and swelling gradually resolved over three weeks. This case emphasises the importance of clinical suspicion of inhibitor formation in a patient already diagnosed with haemophilia A presenting with unusual bleeding that does not respond to standard treatment.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127543745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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