C. Kwan, Anthony K. C. Chan, P. Koh, Nurahmat Kadir, K. Decker, C. Y. Lim, J. Lam
Abstract Background In children with haemophilia (CwH), central venous access devices (CVADs) are frequently placed to aid in the delivery of factor concentrates. In those who develop inhibitors, CVADs also allow for easy venous access and facilitation of immune tolerance therapy. Aim In this study, we compare perioperative practices for CVAD placement in children with haemophilia to assess similarities and differences in practices across centres in two countries (Singapore and Canada). Methods Retrospective chart review was conducted involving CwH (with and without inhibitors) who underwent CVAD placement from January 2007 to September 2017 at two centres in Singapore and at one centre in Hamilton, Canada. Data obtained included demographics, operative details, preoperative investigations, perioperative factor replacement, use of bypassing agents, antibiotic and antifibrinolytic use, length of stay, complications and need for CVAD revision. Results Twenty-one CwH were included in the data analysis. Amongst those without inhibitors, the mean preoperative factor dose was 50.0 IU/kg (SD=7.6) in Singapore, and 72.4 IU/kg (SD=12.5) in Hamilton (p=0.002); mean total factor use in the perioperative period was 425.0IU/kg (SD=114.9) in Singapore and 646.8IU/kg (SD=118.1) in Hamilton (p=0.004); mean duration of clotting factor replacement was 5.3 days (SD=0.9) in Singapore and 6.9 days (SD=0.7) in Hamilton (p=0.004). Amongst those with inhibitors, the mean preoperative dose of rFVIIa was 160.5 mcg/kg (SD=99.9) in Singapore and 88.2 mcg/kg (SD=3.8) in Hamilton (p=0.244); mean total rFVIIa used from surgery to discharge was 3,008.0 mcg/kg (SD=2305.9) in Singapore and 2,640.2 mcg/kg (SD=134.1) in Hamilton (p=0.842); mean duration of rFVIIa cover was 5.3 days (SD=1.7) in Singapore and 9.5 days (SD=2.1) in Hamilton (p=0.054). None of the CwH without inhibitors developed postoperative complications, compared to 57% in those with inhibitors (p=0.006). Conclusion Amongst CwH without inhibitors, significant variations were seen in perioperative factor replacement. Amongst those with inhibitors, there were also differences in perioperative practices across centres, although not statistically significant. Across centres, CwH with inhibitors were found to have more postoperative complications.
{"title":"Comparison of perioperative practices for placement of central venous access devices (CVAD) in children with haemophilia","authors":"C. Kwan, Anthony K. C. Chan, P. Koh, Nurahmat Kadir, K. Decker, C. Y. Lim, J. Lam","doi":"10.2478/jhp-2022-0013","DOIUrl":"https://doi.org/10.2478/jhp-2022-0013","url":null,"abstract":"Abstract Background In children with haemophilia (CwH), central venous access devices (CVADs) are frequently placed to aid in the delivery of factor concentrates. In those who develop inhibitors, CVADs also allow for easy venous access and facilitation of immune tolerance therapy. Aim In this study, we compare perioperative practices for CVAD placement in children with haemophilia to assess similarities and differences in practices across centres in two countries (Singapore and Canada). Methods Retrospective chart review was conducted involving CwH (with and without inhibitors) who underwent CVAD placement from January 2007 to September 2017 at two centres in Singapore and at one centre in Hamilton, Canada. Data obtained included demographics, operative details, preoperative investigations, perioperative factor replacement, use of bypassing agents, antibiotic and antifibrinolytic use, length of stay, complications and need for CVAD revision. Results Twenty-one CwH were included in the data analysis. Amongst those without inhibitors, the mean preoperative factor dose was 50.0 IU/kg (SD=7.6) in Singapore, and 72.4 IU/kg (SD=12.5) in Hamilton (p=0.002); mean total factor use in the perioperative period was 425.0IU/kg (SD=114.9) in Singapore and 646.8IU/kg (SD=118.1) in Hamilton (p=0.004); mean duration of clotting factor replacement was 5.3 days (SD=0.9) in Singapore and 6.9 days (SD=0.7) in Hamilton (p=0.004). Amongst those with inhibitors, the mean preoperative dose of rFVIIa was 160.5 mcg/kg (SD=99.9) in Singapore and 88.2 mcg/kg (SD=3.8) in Hamilton (p=0.244); mean total rFVIIa used from surgery to discharge was 3,008.0 mcg/kg (SD=2305.9) in Singapore and 2,640.2 mcg/kg (SD=134.1) in Hamilton (p=0.842); mean duration of rFVIIa cover was 5.3 days (SD=1.7) in Singapore and 9.5 days (SD=2.1) in Hamilton (p=0.054). None of the CwH without inhibitors developed postoperative complications, compared to 57% in those with inhibitors (p=0.006). Conclusion Amongst CwH without inhibitors, significant variations were seen in perioperative factor replacement. Amongst those with inhibitors, there were also differences in perioperative practices across centres, although not statistically significant. Across centres, CwH with inhibitors were found to have more postoperative complications.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"15 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":"129145907","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 As life expectancy increases, women with bleeding disorders can expect to live for decades after their menopause – potentially with a range of comorbidities including cardiovascular (CV) disease, cancer and osteoporosis. Menstrual bleeding around the menopause may be heavy and unpredictable for women with bleeding disorders (WBD). Hormone replacement therapy (HRT) remains the gold standard for those with debilitating menopausal symptoms and for osteoporosis prevention. Levels of endogenous von Willebrand factor (VWF) increase with age in the general population without bleeding disorders, with an associated rise in levels of Factor VIII (FVIII). Evidence also suggests age-related increases in VWF in people with von Willebrand disease (VWD), with limited but potentially associated evidence for increases in FVIII in those with mild or moderate haemophilia A. However, it appears that age-related changes in factor levels do not correlate completely with bleeding episodes, and more data are needed to fully understand the picture. New models of comprehensive care are needed that take account of age-related comorbidities in both women and men with bleeding disorders, including the impact of polypharmacy and its potential for causing adverse effects and impaired treatment adherence. Consideration will also be needed for bleeding cover during interventions such as surgery, radiotherapy and chemotherapy that become more likely with age. Protocols and care pathways need to be updated as the implications of ageing in women and men with bleeding disorders become better understood.
{"title":"Ageing and women with bleeding disorders","authors":"S. Radhakrishnan, R. d’Oiron","doi":"10.2478/jhp-2022-0016","DOIUrl":"https://doi.org/10.2478/jhp-2022-0016","url":null,"abstract":"Abstract As life expectancy increases, women with bleeding disorders can expect to live for decades after their menopause – potentially with a range of comorbidities including cardiovascular (CV) disease, cancer and osteoporosis. Menstrual bleeding around the menopause may be heavy and unpredictable for women with bleeding disorders (WBD). Hormone replacement therapy (HRT) remains the gold standard for those with debilitating menopausal symptoms and for osteoporosis prevention. Levels of endogenous von Willebrand factor (VWF) increase with age in the general population without bleeding disorders, with an associated rise in levels of Factor VIII (FVIII). Evidence also suggests age-related increases in VWF in people with von Willebrand disease (VWD), with limited but potentially associated evidence for increases in FVIII in those with mild or moderate haemophilia A. However, it appears that age-related changes in factor levels do not correlate completely with bleeding episodes, and more data are needed to fully understand the picture. New models of comprehensive care are needed that take account of age-related comorbidities in both women and men with bleeding disorders, including the impact of polypharmacy and its potential for causing adverse effects and impaired treatment adherence. Consideration will also be needed for bleeding cover during interventions such as surgery, radiotherapy and chemotherapy that become more likely with age. Protocols and care pathways need to be updated as the implications of ageing in women and men with bleeding disorders become better understood.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"16 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":"121044773","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 There is a historic but persistent belief in haemophilia care that women do not suffer with the condition, they merely carry and transmit it. However, around 250 women worldwide are known to have factor levels within the severe to moderate haemophilia range (<1 IU/dL to 5 IU/dL), and the true figure may be greater than this. The experience of these women may be the same as or similar to those of men with similar factor levels, but there may be significant differences. What these differences are and what they mean to the women affected are not well understood as their voices are not heard. This case study highlights the issues and experiences of one woman living severe haemophilia. Methods A single semi-structured qualitative interview was undertaken to explore the experiences of a young woman who has factor VIII levels of <1 IU/dL. The interview was recorded, transcribed and thematically analysed. Results Four interlinked themes were identified: recognition, self-advocacy, identity and access to treatment. Conclusion This case study indicates that, despite recent attempts to improve the diagnostic nomenclature, women and girls with haemophilia continue to find it difficult to access similar levels of care to men and boys. As such, they may fail to achieve parity in terms of safety, integrity and wellbeing, and have a reduced quality of life. If women and girls affected by haemophilia are to receive levels of treatment comparable to men, diagnostic criteria need to change further. Focusing on genotype, levels of factor expressed and phenotypical presentation rather than biological sex will acknowledge and validate their experiences, and improve treatment for all people with haemophilia in the future.
{"title":"“I didn’t know women could have haemophilia”: A qualitative case study","authors":"Simon Fletcher","doi":"10.2478/jhp-2022-0011","DOIUrl":"https://doi.org/10.2478/jhp-2022-0011","url":null,"abstract":"Abstract Introduction There is a historic but persistent belief in haemophilia care that women do not suffer with the condition, they merely carry and transmit it. However, around 250 women worldwide are known to have factor levels within the severe to moderate haemophilia range (<1 IU/dL to 5 IU/dL), and the true figure may be greater than this. The experience of these women may be the same as or similar to those of men with similar factor levels, but there may be significant differences. What these differences are and what they mean to the women affected are not well understood as their voices are not heard. This case study highlights the issues and experiences of one woman living severe haemophilia. Methods A single semi-structured qualitative interview was undertaken to explore the experiences of a young woman who has factor VIII levels of <1 IU/dL. The interview was recorded, transcribed and thematically analysed. Results Four interlinked themes were identified: recognition, self-advocacy, identity and access to treatment. Conclusion This case study indicates that, despite recent attempts to improve the diagnostic nomenclature, women and girls with haemophilia continue to find it difficult to access similar levels of care to men and boys. As such, they may fail to achieve parity in terms of safety, integrity and wellbeing, and have a reduced quality of life. If women and girls affected by haemophilia are to receive levels of treatment comparable to men, diagnostic criteria need to change further. Focusing on genotype, levels of factor expressed and phenotypical presentation rather than biological sex will acknowledge and validate their experiences, and improve treatment for all people with haemophilia in the future.","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":"131919116","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. Bok, D. Noone, Naja Skouw-Rasmussen, Ehc Think Tank
Abstract Introduction Patient registries are an invaluable resource for furthering the understanding of rare diseases such as bleeding disorders, providing large, pooled datasets not achievable by other means of data collection. As well as supporting clinical care and research, registries must also be able to answer questions that are important to the wider bleeding disorders community. However, there are challenges associated with the need for secure access, exchange of health data, quality and interoperability, and data delivery. Identifying key challenges As part of the EHC Think Tank Patient Registries Workstream, 17 stakeholders representing health care providers, patient groups, research and industry met in October 2021 to identify challenges to managing and utilising patient registries, from each of their stakeholder perspectives. This is a first step in a longer term process aiming to identify or co-create solutions that could improve access and interpretation of patient data. The challenges identified relate to five key categories which are interlinked in various ways: 1. The multiplicity of registries and datasets; 2. Data quality; 3. Data sharing; 4. Expanding the scope of registries; 5. The role of the patient in registries. Summary The heterogeneity in the way that registries are designed, funded and owned, the type of data collected, and the way data is collected are issues that must be addressed. Good, quality data is needed at all levels to ensure the provision and funding of effective care. Data quality will increase overall if it is possible to merge data from different registries. The value of patient participation in registries must also be acknowledged and built on to help ensure their quality, that they remain fit for purpose, and that data input is sustained over time.
{"title":"Key challenges for patient registries – A report from the 1st workshop of the EHC Think Tank Workstream on Registries","authors":"A. Bok, D. Noone, Naja Skouw-Rasmussen, Ehc Think Tank","doi":"10.2478/jhp-2022-0002","DOIUrl":"https://doi.org/10.2478/jhp-2022-0002","url":null,"abstract":"Abstract Introduction Patient registries are an invaluable resource for furthering the understanding of rare diseases such as bleeding disorders, providing large, pooled datasets not achievable by other means of data collection. As well as supporting clinical care and research, registries must also be able to answer questions that are important to the wider bleeding disorders community. However, there are challenges associated with the need for secure access, exchange of health data, quality and interoperability, and data delivery. Identifying key challenges As part of the EHC Think Tank Patient Registries Workstream, 17 stakeholders representing health care providers, patient groups, research and industry met in October 2021 to identify challenges to managing and utilising patient registries, from each of their stakeholder perspectives. This is a first step in a longer term process aiming to identify or co-create solutions that could improve access and interpretation of patient data. The challenges identified relate to five key categories which are interlinked in various ways: 1. The multiplicity of registries and datasets; 2. Data quality; 3. Data sharing; 4. Expanding the scope of registries; 5. The role of the patient in registries. Summary The heterogeneity in the way that registries are designed, funded and owned, the type of data collected, and the way data is collected are issues that must be addressed. Good, quality data is needed at all levels to ensure the provision and funding of effective care. Data quality will increase overall if it is possible to merge data from different registries. The value of patient participation in registries must also be acknowledged and built on to help ensure their quality, that they remain fit for purpose, and that data input is sustained over time.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"18 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":"121984000","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}
Casey L Li, Anthony K. C. Chan, D. Matino, M. Bhatt, K. Decker, K. Strike
Abstract Introduction Patients with haemophilia require regular assessments and physical examinations. The COVID-19 pandemic has resulted in the rapid adoption of telemedicine to enable virtual consultations and reduce hospital visits. However, the process of virtual consultations is new to many haemophilia clinics. A better understanding of best practices in telemedicine is important to ensure optimal quality of care for patients with haemophilia. Objectives To summarise the current literature on the use of direct-to-consumer telemedicine for patients with haemophilia and to describe the effectiveness and potential limitations of the technology and methods used. Methods A comprehensive search was conducted in MEDLINE and EMBASE databases using terms referring to the concepts “haemophilia” AND “telemedicine” and their synonyms. There were no time or language restrictions. Title, abstracts, and full texts were screened. Included articles involved telemedicine interventions to facilitate clinical services directly between patients and providers without the use of third-party personnel. The primary outcome was the satisfaction of providers and patients. Secondary outcomes included economic considerations and clinical outcomes. Information was extracted based on study-specific, patient-specific, intervention-specific, and outcome-specific data. Results Of the 925 articles screened, six were identified and summarised. Three described telemedicine within the context of COVID-19. Technologies used included telephone calls, videoconferencing, text messaging, and email. All studies involved a multidisciplinary team. Telemedicine in haemophilia care was found to positively impact the patient experience. Providers were satisfied with telemedicine. It was also suggested to be economically beneficial and positively impacted patient outcomes. However, none of the articles reported on how telemedicine was specifically used to perform assessments during the virtual consultation process. Conclusions There is preliminary evidence that telemedicine may be beneficial in haemophilia care. Overall, patients and providers reported high satisfaction with the usage of direct-to-consumer telemedicine. This positive reception warrants improvements in standardisation of reporting and quality of study design to better assess its clinical and economic impact. Developing a standard guideline for virtual consultations would support healthcare practitioners in how to best incorporate telemedicine to improve quality of care.
{"title":"Telemedicine in haemophilia during COVID-19 and beyond: a comprehensive review","authors":"Casey L Li, Anthony K. C. Chan, D. Matino, M. Bhatt, K. Decker, K. Strike","doi":"10.2478/jhp-2021-0011","DOIUrl":"https://doi.org/10.2478/jhp-2021-0011","url":null,"abstract":"Abstract Introduction Patients with haemophilia require regular assessments and physical examinations. The COVID-19 pandemic has resulted in the rapid adoption of telemedicine to enable virtual consultations and reduce hospital visits. However, the process of virtual consultations is new to many haemophilia clinics. A better understanding of best practices in telemedicine is important to ensure optimal quality of care for patients with haemophilia. Objectives To summarise the current literature on the use of direct-to-consumer telemedicine for patients with haemophilia and to describe the effectiveness and potential limitations of the technology and methods used. Methods A comprehensive search was conducted in MEDLINE and EMBASE databases using terms referring to the concepts “haemophilia” AND “telemedicine” and their synonyms. There were no time or language restrictions. Title, abstracts, and full texts were screened. Included articles involved telemedicine interventions to facilitate clinical services directly between patients and providers without the use of third-party personnel. The primary outcome was the satisfaction of providers and patients. Secondary outcomes included economic considerations and clinical outcomes. Information was extracted based on study-specific, patient-specific, intervention-specific, and outcome-specific data. Results Of the 925 articles screened, six were identified and summarised. Three described telemedicine within the context of COVID-19. Technologies used included telephone calls, videoconferencing, text messaging, and email. All studies involved a multidisciplinary team. Telemedicine in haemophilia care was found to positively impact the patient experience. Providers were satisfied with telemedicine. It was also suggested to be economically beneficial and positively impacted patient outcomes. However, none of the articles reported on how telemedicine was specifically used to perform assessments during the virtual consultation process. Conclusions There is preliminary evidence that telemedicine may be beneficial in haemophilia care. Overall, patients and providers reported high satisfaction with the usage of direct-to-consumer telemedicine. This positive reception warrants improvements in standardisation of reporting and quality of study design to better assess its clinical and economic impact. Developing a standard guideline for virtual consultations would support healthcare practitioners in how to best incorporate telemedicine to improve quality of care.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129500164","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 As a person with haemophilia B, I have known there are differences between haemophilia A and haemophilia B and their respective treatment throughout my life – though I was shocked when I learnt about the impact inhibitors can have when it comes to bleeding. Despite being very rare, as well as difficult to manage, in a recent survey reported by Chaplin et al., many nurses had experience in managing haemophilia B inhibitors. Nurses in the survey also thought extended half-life (EHL) factor products would remain the optimal treatment for haemophilia B in 2025. Ongoing clinical trials for novel molecules like concuzimab and fitusiran signal the start of more treatment options for haemophilia B, and the development of gene therapy has focused on haemophilia B in the first instance. But the fact remains that the pharmaceutical industry has focused on developing treatments for the larger haemophilia A market. Could this have distorted perceptions around treatment? In a further ‘perception bias’ that impacts management, some nurses feel there are differences in bleeding phenotype between haemophilia A and B. Garner et al.'s paper discussing rIX-FX, suggests that treatment adherence is better in haemophilia B due to lower dosing frequency, making it an easier treatment option than for haemophilia A. The patient perception may be somewhat different. While dosing schedules in haemophilia B have been more consistent for longer, there has been less pharmacokinetic modelling in haemophilia B and, arguably, less opportunity for truly tailored treatment. Gene therapy has been shown to be more ‘successful’ for haemophilia B than haemophilia A, but emicizumab has raised questions about the need for gene therapy in haemophilia A. Having an ‘emi-equivalent’ for haemophilia B will raise the same questions and may give people haemophilia B and inhibitors an effective treatment that is as transformative as emicizumab has been in the haemophilia A population.
{"title":"The B-team: Equal but different?","authors":"Luke Pembroke","doi":"10.2478/jhp-2021-0014","DOIUrl":"https://doi.org/10.2478/jhp-2021-0014","url":null,"abstract":"Abstract As a person with haemophilia B, I have known there are differences between haemophilia A and haemophilia B and their respective treatment throughout my life – though I was shocked when I learnt about the impact inhibitors can have when it comes to bleeding. Despite being very rare, as well as difficult to manage, in a recent survey reported by Chaplin et al., many nurses had experience in managing haemophilia B inhibitors. Nurses in the survey also thought extended half-life (EHL) factor products would remain the optimal treatment for haemophilia B in 2025. Ongoing clinical trials for novel molecules like concuzimab and fitusiran signal the start of more treatment options for haemophilia B, and the development of gene therapy has focused on haemophilia B in the first instance. But the fact remains that the pharmaceutical industry has focused on developing treatments for the larger haemophilia A market. Could this have distorted perceptions around treatment? In a further ‘perception bias’ that impacts management, some nurses feel there are differences in bleeding phenotype between haemophilia A and B. Garner et al.'s paper discussing rIX-FX, suggests that treatment adherence is better in haemophilia B due to lower dosing frequency, making it an easier treatment option than for haemophilia A. The patient perception may be somewhat different. While dosing schedules in haemophilia B have been more consistent for longer, there has been less pharmacokinetic modelling in haemophilia B and, arguably, less opportunity for truly tailored treatment. Gene therapy has been shown to be more ‘successful’ for haemophilia B than haemophilia A, but emicizumab has raised questions about the need for gene therapy in haemophilia A. Having an ‘emi-equivalent’ for haemophilia B will raise the same questions and may give people haemophilia B and inhibitors an effective treatment that is as transformative as emicizumab has been in the haemophilia A population.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116846082","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}
L. Valentino, V. Blanchette, C. Négrier, B. O’Mahony, V. Bias, T. Sannié, M. Skinner
Abstract The current standard of care for treating people with haemophilia (PWH) in the developed world is prophylaxis with regular infusions of clotting factor concentrates. Gene therapy is being investigated as a new treatment paradigm for haemophilia and if approved would potentially eliminate the need for chronic, burdensome infusions. In recent years, shared decision making (SDM) has become increasingly common in patient care settings. SDM is a stepwise process that relies on reciprocal information sharing between the practitioner and patient, resulting in health care decisions stemming from the informed preferences of both parties. SDM represents a departure from the traditional, paternalistic clinical model where the practitioner drives the treatment decision and the patient passively defers to this decision. As the potential introduction of gene therapy in haemophilia may transform the current standard of care, and impact disease management and goals in unique ways, both practitioners and PWH may find their knowledge tested when considering the appropriate use of a novel technology. Therefore, it is incumbent upon haemophilia practitioners to foster an open, trusting, and supportive relationship with their patients, while PWH and their caregivers must be knowledgeable and feel empowered to participate in the decision making process to achieve truly shared treatment decisions.
{"title":"Personalising haemophilia management with shared decision making","authors":"L. Valentino, V. Blanchette, C. Négrier, B. O’Mahony, V. Bias, T. Sannié, M. Skinner","doi":"10.17225/jhp00178","DOIUrl":"https://doi.org/10.17225/jhp00178","url":null,"abstract":"Abstract The current standard of care for treating people with haemophilia (PWH) in the developed world is prophylaxis with regular infusions of clotting factor concentrates. Gene therapy is being investigated as a new treatment paradigm for haemophilia and if approved would potentially eliminate the need for chronic, burdensome infusions. In recent years, shared decision making (SDM) has become increasingly common in patient care settings. SDM is a stepwise process that relies on reciprocal information sharing between the practitioner and patient, resulting in health care decisions stemming from the informed preferences of both parties. SDM represents a departure from the traditional, paternalistic clinical model where the practitioner drives the treatment decision and the patient passively defers to this decision. As the potential introduction of gene therapy in haemophilia may transform the current standard of care, and impact disease management and goals in unique ways, both practitioners and PWH may find their knowledge tested when considering the appropriate use of a novel technology. Therefore, it is incumbent upon haemophilia practitioners to foster an open, trusting, and supportive relationship with their patients, while PWH and their caregivers must be knowledgeable and feel empowered to participate in the decision making process to achieve truly shared treatment decisions.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129509305","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}
M. Bullinger, Diandra Latibeaudiere Gardner, H. Lewis, W. Miesbach, Sandra Nolte, J. O’Hara, B. O’Mahony, D. Pollard, M. Skinner, J. Quinn
Abstract Introduction Haemophilia is an inherited bleeding disorder characterised by spontaneous bleeding, often leading to impaired health-related quality of life (HRQoL). Commonly used treatments include episodic and prophylactic treatment regimens. Gene therapies could soon become available, potentially creating a paradigm shift in patient management. Aim This paper proposes hypotheses about the potential impact of gene therapy on HRQoL domains in haemophilia, and how these impacts might differ compared with existing treatments. Methods An expert working group with 10 individuals experienced in haemophilia and HRQoL research was established to discuss potential impacts of gene therapy on HRQoL in general and for specific domains in haemophilia. As part of a one-day workshop, domains of three widely used patient-reported outcome (PRO) instruments were explored: the Haemo-QoL-A, the Patient Reported Outcomes, Burden and Experiences (PROBE), and the Haemophilia Activities List (HAL). Results The group expected a greater improvement in HRQoL from gene therapy compared with existing treatments for the following domains: physical/role functioning, worry, and consequences of bleeding (Haemo-QoL-A); haemophilia-related health and EQ-5D-5L (part of the PROBE); leg and arm function, and leisure activities (HAL). In contrast, the experts suggested that no change or potential deterioration might be observed for the emotional impact (HAL) and treatment concerns (Haemo-QoL-A) domains. Conclusions Current PRO instruments in haemophilia have limitations when applied in the context of gene therapy, and no single instrument fully captures the relevant HRQoL domains. However, the PROBE and Haemo-QoL-A were considered as the most suitable existing instruments. As haemophilia treatments evolve, further research should examine the potential effectiveness of existing PRO instruments as compared to the development of novel PRO measures.
{"title":"The potential impact of gene therapy on health-related quality of life (HRQoL) domains in haemophilia","authors":"M. Bullinger, Diandra Latibeaudiere Gardner, H. Lewis, W. Miesbach, Sandra Nolte, J. O’Hara, B. O’Mahony, D. Pollard, M. Skinner, J. Quinn","doi":"10.17225/jhp00176","DOIUrl":"https://doi.org/10.17225/jhp00176","url":null,"abstract":"Abstract Introduction Haemophilia is an inherited bleeding disorder characterised by spontaneous bleeding, often leading to impaired health-related quality of life (HRQoL). Commonly used treatments include episodic and prophylactic treatment regimens. Gene therapies could soon become available, potentially creating a paradigm shift in patient management. Aim This paper proposes hypotheses about the potential impact of gene therapy on HRQoL domains in haemophilia, and how these impacts might differ compared with existing treatments. Methods An expert working group with 10 individuals experienced in haemophilia and HRQoL research was established to discuss potential impacts of gene therapy on HRQoL in general and for specific domains in haemophilia. As part of a one-day workshop, domains of three widely used patient-reported outcome (PRO) instruments were explored: the Haemo-QoL-A, the Patient Reported Outcomes, Burden and Experiences (PROBE), and the Haemophilia Activities List (HAL). Results The group expected a greater improvement in HRQoL from gene therapy compared with existing treatments for the following domains: physical/role functioning, worry, and consequences of bleeding (Haemo-QoL-A); haemophilia-related health and EQ-5D-5L (part of the PROBE); leg and arm function, and leisure activities (HAL). In contrast, the experts suggested that no change or potential deterioration might be observed for the emotional impact (HAL) and treatment concerns (Haemo-QoL-A) domains. Conclusions Current PRO instruments in haemophilia have limitations when applied in the context of gene therapy, and no single instrument fully captures the relevant HRQoL domains. However, the PROBE and Haemo-QoL-A were considered as the most suitable existing instruments. As haemophilia treatments evolve, further research should examine the potential effectiveness of existing PRO instruments as compared to the development of novel PRO measures.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125407648","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 Background Hereditary factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance, and FVII deficiency with an inhibitor is extremely rare. There is sparse information in the literature on the management of tooth extraction in patients with FVII deficiency and an inhibitor. Case description We report the case of a five-year-old child with FVII deficiency and an inhibitor who underwent dental extraction. The child had had multiple bleeding episodes including intracranial haemorrhage and had a history of severe allergic reaction to the infusion of recombinant FVII. The tooth was extracted using lignocaine gel and the antifibrinolytic agent oral tranexamic acid. Conclusion The extraction of a deciduous tooth in a patient with FVII deficiency and an inhibitor was undertaken without bleeding complications. There are currently no guidelines regarding management of this type of case. Further studies and evidence are required so that management can be standardised.
{"title":"Dental extraction in congenital factor Vll deficiency with inhibitor – a case report","authors":"G. Nayar, V. Pillai, S. Mathew, G. Menon","doi":"10.17225/jhp00177","DOIUrl":"https://doi.org/10.17225/jhp00177","url":null,"abstract":"Abstract Background Hereditary factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance, and FVII deficiency with an inhibitor is extremely rare. There is sparse information in the literature on the management of tooth extraction in patients with FVII deficiency and an inhibitor. Case description We report the case of a five-year-old child with FVII deficiency and an inhibitor who underwent dental extraction. The child had had multiple bleeding episodes including intracranial haemorrhage and had a history of severe allergic reaction to the infusion of recombinant FVII. The tooth was extracted using lignocaine gel and the antifibrinolytic agent oral tranexamic acid. Conclusion The extraction of a deciduous tooth in a patient with FVII deficiency and an inhibitor was undertaken without bleeding complications. There are currently no guidelines regarding management of this type of case. Further studies and evidence are required so that management can be standardised.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"47 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"113982638","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 Background Disease-specific camps present one means of helping children overcome the challenges associated with chronic conditions and improving clinical and psychosocial outcomes. For more than 50 years, bleeding disorders camps (BDCs) in the United States (US) have been promoting independence, self-care, and leadership skills in children with bleeding disorders, all while fostering camaraderie in a secure and safe environment. However, little is known about how BDCs are organised, administered, funded, staffed, or how staff are compensated. Aim This article aims to describe the attributes of BDCs that service the US bleeding disorders community, and to compare and contrast these attributes to identify gaps in the BDC system and areas for improvement. Methods The National Hemophilia Foundation (NHF), in collaboration with several members of its Nursing Working Group and Physical Therapy Working Group, developed a survey that was distributed to BDC administrators (CAs) and health care providers (HCPs). Results A total of 101 HCPs and 20 CAs completed the survey. Findings indicated that BDCs are an informal extension of both the HTCs and NHF chapters, reaffirming that camps play a crucial role in the overall care of bleeding disorders. In general, diminishing financial resources threaten the existence of BDCs. Although there are BDC guidelines for formal staff training and specific interventions delivered to camp participants, adherence is variable. Other gaps included minimal self-infusion education follow-up with no documentation on effect or benefit of infusion education provided at camp. Conclusion Addressing the gaps identified by this survey and documenting resultant data supporting the value of BDCs will facilitate their continued sustainability in light of increasingly limited funding.
{"title":"A descriptive study of United States bleeding disorders camps","authors":"M. Santaella, C. Nichols, M. Witkop","doi":"10.17225/jhp00171","DOIUrl":"https://doi.org/10.17225/jhp00171","url":null,"abstract":"Abstract Background Disease-specific camps present one means of helping children overcome the challenges associated with chronic conditions and improving clinical and psychosocial outcomes. For more than 50 years, bleeding disorders camps (BDCs) in the United States (US) have been promoting independence, self-care, and leadership skills in children with bleeding disorders, all while fostering camaraderie in a secure and safe environment. However, little is known about how BDCs are organised, administered, funded, staffed, or how staff are compensated. Aim This article aims to describe the attributes of BDCs that service the US bleeding disorders community, and to compare and contrast these attributes to identify gaps in the BDC system and areas for improvement. Methods The National Hemophilia Foundation (NHF), in collaboration with several members of its Nursing Working Group and Physical Therapy Working Group, developed a survey that was distributed to BDC administrators (CAs) and health care providers (HCPs). Results A total of 101 HCPs and 20 CAs completed the survey. Findings indicated that BDCs are an informal extension of both the HTCs and NHF chapters, reaffirming that camps play a crucial role in the overall care of bleeding disorders. In general, diminishing financial resources threaten the existence of BDCs. Although there are BDC guidelines for formal staff training and specific interventions delivered to camp participants, adherence is variable. Other gaps included minimal self-infusion education follow-up with no documentation on effect or benefit of infusion education provided at camp. Conclusion Addressing the gaps identified by this survey and documenting resultant data supporting the value of BDCs will facilitate their continued sustainability in light of increasingly limited funding.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"26 4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131206073","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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