Abstract Introduction A care pathway is defined as “a complex intervention for the mutual decision-making and organisation of care processes for a well-defined group of patients during a well-defined period.” The European Haemophilia Consortium (EHC) established a Think Tank Workstream on Future Care Pathways to identify and address key challenges in shaping future pathways that meet the needs of people with rare diseases while remaining practicable and affordable to healthcare providers in countries with different budgets and resources. This workstream is particularly timely as the introduction of innovative therapies is adding to the complexity of care pathways in some rare conditions. Identifying key challenges During the first virtual workshop of the Future Care Pathways Workstream on 14 February 2023, stakeholders, including healthcare providers, patient groups, researchers, and industry representatives, agreed to focus on four workable themes/challenges: 1. Prioritisation (cost and evidence); 2. Agreeing on a baseline; 3. Digital health; 4. Fragmentation of healthcare. Summary Prioritisation relates to economic and financial challenges in justifying the optimisation of a care pathway for a rare disease within the context of other healthcare priorities. Currently, there is too much emphasis on costs to healthcare systems, and not enough on real-life patient experience and indirect costs to patients and their families. Innovation in pathways is generally considered unaffordable, and cost-effectiveness models are difficult to apply to rare diseases. Agreeing on a baseline for a minimum standard of care in a pathway should take into account variability in patient needs, agency and healthcare system resources. A baseline needs to be agreed upon for each stage of a pathway: first clinical presentation, diagnosis, treatment, and monitoring and follow-up. Lack of awareness, gender and resource inequalities and gaps in evidence are among the issues that need to be addressed. Digital health holds promise but also brings challenges for future care pathways and must be considered from the viewpoint of all major stakeholders: patients, healthcare providers, tech companies and payers. Digital health systems are often developed in silos and do not allow for effective integration and sharing of data. Collaboration from the beginning is essential to the successful integration of digital tool as in healthcare. Fragmentation of healthcare can arise because people with rare diseases may access care pathways through multiple entry points in primary and secondary care, and they may not experience holistic care that takes account of all their needs. Poor communication at multiple levels (e.g. between clinical stakeholders and between clinicians and patients) is a common problem leading to inadequate treatment and care. Fragmentation may also arise when care pathways do not allow for a patient’s evolving needs when he/she is already on a pathway.
{"title":"Future Care Pathways – A report from the 1st workshop of the EHC Think Tank Workstream on Future Care Pathways","authors":"Naja Skouw-Rasmussen, L. Savini","doi":"10.2478/jhp-2023-0013","DOIUrl":"https://doi.org/10.2478/jhp-2023-0013","url":null,"abstract":"Abstract Introduction A care pathway is defined as “a complex intervention for the mutual decision-making and organisation of care processes for a well-defined group of patients during a well-defined period.” The European Haemophilia Consortium (EHC) established a Think Tank Workstream on Future Care Pathways to identify and address key challenges in shaping future pathways that meet the needs of people with rare diseases while remaining practicable and affordable to healthcare providers in countries with different budgets and resources. This workstream is particularly timely as the introduction of innovative therapies is adding to the complexity of care pathways in some rare conditions. Identifying key challenges During the first virtual workshop of the Future Care Pathways Workstream on 14 February 2023, stakeholders, including healthcare providers, patient groups, researchers, and industry representatives, agreed to focus on four workable themes/challenges: 1. Prioritisation (cost and evidence); 2. Agreeing on a baseline; 3. Digital health; 4. Fragmentation of healthcare. Summary Prioritisation relates to economic and financial challenges in justifying the optimisation of a care pathway for a rare disease within the context of other healthcare priorities. Currently, there is too much emphasis on costs to healthcare systems, and not enough on real-life patient experience and indirect costs to patients and their families. Innovation in pathways is generally considered unaffordable, and cost-effectiveness models are difficult to apply to rare diseases. Agreeing on a baseline for a minimum standard of care in a pathway should take into account variability in patient needs, agency and healthcare system resources. A baseline needs to be agreed upon for each stage of a pathway: first clinical presentation, diagnosis, treatment, and monitoring and follow-up. Lack of awareness, gender and resource inequalities and gaps in evidence are among the issues that need to be addressed. Digital health holds promise but also brings challenges for future care pathways and must be considered from the viewpoint of all major stakeholders: patients, healthcare providers, tech companies and payers. Digital health systems are often developed in silos and do not allow for effective integration and sharing of data. Collaboration from the beginning is essential to the successful integration of digital tool as in healthcare. Fragmentation of healthcare can arise because people with rare diseases may access care pathways through multiple entry points in primary and secondary care, and they may not experience holistic care that takes account of all their needs. Poor communication at multiple levels (e.g. between clinical stakeholders and between clinicians and patients) is a common problem leading to inadequate treatment and care. Fragmentation may also arise when care pathways do not allow for a patient’s evolving needs when he/she is already on a pathway.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115645129","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}
S. Sraidi, Sara Naim, M. Lamchahab, S. Cherkaoui, M. Qachouh, M. Rachid, A. Madani, N. Khoubila
Abstract Introduction For people with haemophilia (PwH) who live in developing countries, haemophilia continues to be a condition with serious medical and social consequences. In Morocco, the efforts of patient associations and medical teams have led to the creation of a national programme for haemophilia care since the end of 2012, and the country is no longer solely reliant on World Federation of Hemophilia (WFH) donations for access to factor products. There is growing recognition of the impact of the pain experienced by PwH. To continue to improve treatment for PwH in Morocco, it is important to ensure that they are also able to manage haemophilia-related pain. Aims This study aims to describe the prevalence, characteristics, and effects of pain experienced by PwH in Morocco for the first time, in order to increase understanding, and to support consideration of interventions and improvements in care. Methods We conducted a prospective, descriptive survey of the experience of pain in PwH attending the Department of Clinical Hematology and Pediatric Oncology in Casablanca, using the Multidimensional Hemophilia Pain Questionnaire (MHQP) approved by the WFH. All PwH with mild, moderate or severe haemophilia and over 18 years of age who presented to the department during the study period were included; consent was obtained. The data collection period lasted 6 months from October 2020 to April 2021. Results 60 PwH completed the questionnaire (51 haemophilia A, 9 haemophilia B; 38 severe, 22 moderate). All respondents had experienced pain, 90% during the previous year and 75% during the last 3 months. 60% reported the occurrence of pain more than once a week. 65% reported that the right knee was the most painful site in the past year, followed by the right ankle (58%). The right knee was also the site of pain with the most negative impact in the past year. 58% responded that the evening was the time of most intense pain. The therapeutic strategies used against pain were pharmacological and non-pharmacological. 60% of respondents reported using analgesics and 50% reported using coagulation factor substitution for pain relief. Regarding non-pharmacological strategies, rest was reported by 40%, elevation of the painful site/change of position by 20%, and ice by 10%. The majority reported being satisfied or very satisfied with the current treatment of their pain by health professionals. Conclusion This study shows that pain is still very present in PwH treated at our haemophilia centre, with a significant impact on different areas of life. There is a need for action to standardise treatment approaches and develop protocols for pain management in PwH.
{"title":"Pain assessment and management in the Moroccan haemophilia population: a prospective descriptive study","authors":"S. Sraidi, Sara Naim, M. Lamchahab, S. Cherkaoui, M. Qachouh, M. Rachid, A. Madani, N. Khoubila","doi":"10.2478/jhp-2023-0010","DOIUrl":"https://doi.org/10.2478/jhp-2023-0010","url":null,"abstract":"Abstract Introduction For people with haemophilia (PwH) who live in developing countries, haemophilia continues to be a condition with serious medical and social consequences. In Morocco, the efforts of patient associations and medical teams have led to the creation of a national programme for haemophilia care since the end of 2012, and the country is no longer solely reliant on World Federation of Hemophilia (WFH) donations for access to factor products. There is growing recognition of the impact of the pain experienced by PwH. To continue to improve treatment for PwH in Morocco, it is important to ensure that they are also able to manage haemophilia-related pain. Aims This study aims to describe the prevalence, characteristics, and effects of pain experienced by PwH in Morocco for the first time, in order to increase understanding, and to support consideration of interventions and improvements in care. Methods We conducted a prospective, descriptive survey of the experience of pain in PwH attending the Department of Clinical Hematology and Pediatric Oncology in Casablanca, using the Multidimensional Hemophilia Pain Questionnaire (MHQP) approved by the WFH. All PwH with mild, moderate or severe haemophilia and over 18 years of age who presented to the department during the study period were included; consent was obtained. The data collection period lasted 6 months from October 2020 to April 2021. Results 60 PwH completed the questionnaire (51 haemophilia A, 9 haemophilia B; 38 severe, 22 moderate). All respondents had experienced pain, 90% during the previous year and 75% during the last 3 months. 60% reported the occurrence of pain more than once a week. 65% reported that the right knee was the most painful site in the past year, followed by the right ankle (58%). The right knee was also the site of pain with the most negative impact in the past year. 58% responded that the evening was the time of most intense pain. The therapeutic strategies used against pain were pharmacological and non-pharmacological. 60% of respondents reported using analgesics and 50% reported using coagulation factor substitution for pain relief. Regarding non-pharmacological strategies, rest was reported by 40%, elevation of the painful site/change of position by 20%, and ice by 10%. The majority reported being satisfied or very satisfied with the current treatment of their pain by health professionals. Conclusion This study shows that pain is still very present in PwH treated at our haemophilia centre, with a significant impact on different areas of life. There is a need for action to standardise treatment approaches and develop protocols for pain management in PwH.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125405142","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 Shared decision-making (SDM) is an important part of patient-centred care in which healthcare professionals (HCPs) and patients/caregivers jointly reach care decisions through a two-way exchange and synthesis of information based on clinical evidence and patient preference. SDM was described in haemophilia care in 2014 as two-sided intervention to aid patient decision-making. However, as the range of haemophilia treatments has expanded, identifying the optimal haemophilia treatment for an individual has become more complex. This is particularly so in the case of gene therapy, a onetime-only, irreversible treatment. In this context, it is vital that people with haemophilia (PwH) and their families continue to be involved in care decisions in an informed and interactive way. For gene therapy, this must include being well informed about the gene therapy process, enabling the patient to engage in fully informed SDM and consent, and ensuring that issues around long-term durability, potential side effects, the need for long-term follow-up are understood with a recognition that the ‘unknown unknowns’ are also unknown to HCPs. Both HCPs and patient organisations have a key role to play in providing PwH with access to relevant information and education, tailored to individual needs and free of jargon. Considerable education and support are required before PwH can make a truly informed decision about having gene therapy. Use of structured SDM tools such as the SHARE approach can help to support this. There is a need for SDM educational tools that include written/visual information and the use of standardised checklists may be helpful for both PwH and HCPs. The most important part of this process is that PwH want to undergo gene therapy – and this is only an option if they are fully educated and informed by fully educated and informed healthcare teams.
{"title":"Shared decision-making for gene therapy in haemophilia care","authors":"Simon Fletcher, Kathryn Jenner, K. Khair","doi":"10.2478/jhp-2023-0009","DOIUrl":"https://doi.org/10.2478/jhp-2023-0009","url":null,"abstract":"Abstract Shared decision-making (SDM) is an important part of patient-centred care in which healthcare professionals (HCPs) and patients/caregivers jointly reach care decisions through a two-way exchange and synthesis of information based on clinical evidence and patient preference. SDM was described in haemophilia care in 2014 as two-sided intervention to aid patient decision-making. However, as the range of haemophilia treatments has expanded, identifying the optimal haemophilia treatment for an individual has become more complex. This is particularly so in the case of gene therapy, a onetime-only, irreversible treatment. In this context, it is vital that people with haemophilia (PwH) and their families continue to be involved in care decisions in an informed and interactive way. For gene therapy, this must include being well informed about the gene therapy process, enabling the patient to engage in fully informed SDM and consent, and ensuring that issues around long-term durability, potential side effects, the need for long-term follow-up are understood with a recognition that the ‘unknown unknowns’ are also unknown to HCPs. Both HCPs and patient organisations have a key role to play in providing PwH with access to relevant information and education, tailored to individual needs and free of jargon. Considerable education and support are required before PwH can make a truly informed decision about having gene therapy. Use of structured SDM tools such as the SHARE approach can help to support this. There is a need for SDM educational tools that include written/visual information and the use of standardised checklists may be helpful for both PwH and HCPs. The most important part of this process is that PwH want to undergo gene therapy – and this is only an option if they are fully educated and informed by fully educated and informed healthcare teams.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"91 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133566774","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 A nurse at Israel’s National Hemophilia Center for over 35 years, Dalia reflects on lifelong relationships with patients and the ‘family approach’ to care in the context of her experience of caring for a woman with severe haemophilia A. Having cared for the patient since she was a young child, Dalia describes the difficulties she has faced and the importance of ongoing conversations about her life in shaping her care, including risks around pregnancy and having a child. The patient went on to have a son by caesarean section, covered by factor VIII and tranexamic acid; her son was diagnosed with severe haemophilia A at birth and Dalia now sees them both in clinic. The patient also contributes her view on the importance of the close therapeutic relationships she has with Dalia. While acknowledging the importance of setting boundaries, Dalia reflects on the role of the haemophilia centre as an extension of the patient’s family and the nurse as a ‘mother’ figure. She feels the centre’s family approach is reflected not only in the care team’s knowledge of their patients but also through close and effective working relationships between staff, built on experience sharing, discussion and mutual support. Dalia believes it is this combination that has made her centre so successful in its involvement in clinical trials.
{"title":"Living, Caring, Learning – The treatment centre as family for a woman with severe haemophilia","authors":"D. Bashari","doi":"10.2478/jhp-2023-0006","DOIUrl":"https://doi.org/10.2478/jhp-2023-0006","url":null,"abstract":"Abstract A nurse at Israel’s National Hemophilia Center for over 35 years, Dalia reflects on lifelong relationships with patients and the ‘family approach’ to care in the context of her experience of caring for a woman with severe haemophilia A. Having cared for the patient since she was a young child, Dalia describes the difficulties she has faced and the importance of ongoing conversations about her life in shaping her care, including risks around pregnancy and having a child. The patient went on to have a son by caesarean section, covered by factor VIII and tranexamic acid; her son was diagnosed with severe haemophilia A at birth and Dalia now sees them both in clinic. The patient also contributes her view on the importance of the close therapeutic relationships she has with Dalia. While acknowledging the importance of setting boundaries, Dalia reflects on the role of the haemophilia centre as an extension of the patient’s family and the nurse as a ‘mother’ figure. She feels the centre’s family approach is reflected not only in the care team’s knowledge of their patients but also through close and effective working relationships between staff, built on experience sharing, discussion and mutual support. Dalia believes it is this combination that has made her centre so successful in its involvement in clinical trials.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"77 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114867926","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 Josipa, a haemophilia nurse in Croatia, describes how meeting 18-year-old twins with severe haemophilia A changed her views around joint health and activity in people with haemophilia. The twins had started prophylaxis at a young age, learning to self-infuse at a haemophilia summer camp, and were both sporty and active. Neither had experienced joint damage and, 20 years later, they continue to live active lives. Josipa reflects on her own experience of volunteering at a haemophilia summer camp and teaching young people with haemophilia to selfinfuse. She highlights the importance of talking with patients about their lives and understanding their lifestyle and circumstances to provide a treatment regimen tailored to the needs of the individual. Reflecting on the benefit of activity and exercise to joint health in people with haemophilia, Josipa describes how this has also inspired her to become a Nordic walking coach. She notes that access to more effective treatments has enabled a focus on quality of life in haemophilia care, and the importance of maintaining good physical health in an ageing haemophilia population.
{"title":"Living, Caring, Learning – Early education, active lives and tailored treatment in haemophilia care","authors":"Josipa Belev","doi":"10.2478/jhp-2023-0007","DOIUrl":"https://doi.org/10.2478/jhp-2023-0007","url":null,"abstract":"Abstract Josipa, a haemophilia nurse in Croatia, describes how meeting 18-year-old twins with severe haemophilia A changed her views around joint health and activity in people with haemophilia. The twins had started prophylaxis at a young age, learning to self-infuse at a haemophilia summer camp, and were both sporty and active. Neither had experienced joint damage and, 20 years later, they continue to live active lives. Josipa reflects on her own experience of volunteering at a haemophilia summer camp and teaching young people with haemophilia to selfinfuse. She highlights the importance of talking with patients about their lives and understanding their lifestyle and circumstances to provide a treatment regimen tailored to the needs of the individual. Reflecting on the benefit of activity and exercise to joint health in people with haemophilia, Josipa describes how this has also inspired her to become a Nordic walking coach. She notes that access to more effective treatments has enabled a focus on quality of life in haemophilia care, and the importance of maintaining good physical health in an ageing haemophilia population.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134183263","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 Women who carry the haemophilia gene have a genetic risk of having a son with haemophilia, as well as the risk of abnormal bleeding; thus, there is an increasing interest in ‘carriers’ as subjects that potentially require medical support. However, in Japan, only about half of individuals with a family history of haemophilia inform their daughters that they may be carriers. Aims The purpose of this study was to identify strategies used by parents to inform their daughters about their possibility of being haemophilia carriers. Method Parents of daughters with confirmed or suspected carrier status, based on family history, were included in the study. A semi-structured interview was conducted, and data were analysed qualitatively using an inductive approach. Results Eight parents (two men, six women) were included. The mean age of participants was 58 (range: 44-70) years; interviews lasted 76 minutes on average (range: 49-100 minutes). Data showed that parents align their values with each other and share information about their daughters between them (information sharing between partners). They also adopt roles according to sex. Mothers often played the primary role in the process of sharing information with their daughters as they are of the same sex. Since all daughters of fathers with haemophilia would be confirmed carriers, fathers were more concerned about how their daughters might react and had more guilt about their daughters. Parents also attempted to prepare for informing their daughters about haemophilia by observing their stage of mental development to determine the optimal timing to have these conversations. When sharing information about haemophilia, parents were careful to inform their daughters while considering their feelings to ensure that daughters received the information in a positive light. After sharing information about haemophilia, parents played the role of ‘daughter’s supporter’ by confirming their level of understanding and their feelings and considering possible ways to support them in the future. Conclusion Assessment of carrier status can only begin if parents tell their daughters about the possibility of being a haemophilia carrier. Based on the five strategies identified, medical professionals should provide parents with information about haemophilia carriers and sharing information on genetic risk.
{"title":"The strategies of parents who tell their daughters about the possibility of being a haemophilia carrier","authors":"Keiko Nozaki, A. Yamazaki","doi":"10.2478/jhp-2023-0008","DOIUrl":"https://doi.org/10.2478/jhp-2023-0008","url":null,"abstract":"Abstract Introduction Women who carry the haemophilia gene have a genetic risk of having a son with haemophilia, as well as the risk of abnormal bleeding; thus, there is an increasing interest in ‘carriers’ as subjects that potentially require medical support. However, in Japan, only about half of individuals with a family history of haemophilia inform their daughters that they may be carriers. Aims The purpose of this study was to identify strategies used by parents to inform their daughters about their possibility of being haemophilia carriers. Method Parents of daughters with confirmed or suspected carrier status, based on family history, were included in the study. A semi-structured interview was conducted, and data were analysed qualitatively using an inductive approach. Results Eight parents (two men, six women) were included. The mean age of participants was 58 (range: 44-70) years; interviews lasted 76 minutes on average (range: 49-100 minutes). Data showed that parents align their values with each other and share information about their daughters between them (information sharing between partners). They also adopt roles according to sex. Mothers often played the primary role in the process of sharing information with their daughters as they are of the same sex. Since all daughters of fathers with haemophilia would be confirmed carriers, fathers were more concerned about how their daughters might react and had more guilt about their daughters. Parents also attempted to prepare for informing their daughters about haemophilia by observing their stage of mental development to determine the optimal timing to have these conversations. When sharing information about haemophilia, parents were careful to inform their daughters while considering their feelings to ensure that daughters received the information in a positive light. After sharing information about haemophilia, parents played the role of ‘daughter’s supporter’ by confirming their level of understanding and their feelings and considering possible ways to support them in the future. Conclusion Assessment of carrier status can only begin if parents tell their daughters about the possibility of being a haemophilia carrier. Based on the five strategies identified, medical professionals should provide parents with information about haemophilia carriers and sharing information on genetic risk.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"144 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125518407","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 Hereditary factor X (FX) deficiency is a rare autosomal recessive disorder that increases bleeding tendencies, ranging from epistaxis to intracranial haemorrhage (ICH), which can be life-threatening. Single factor concentrates are recommended for treating rare bleeding disorders; however, in India most people with FX deficiency are treated with fresh frozen plasma (FFP). We report a case of FX deficiency in a child with a history of intracranial bleeding who was found to have a novel mutation in the F10 gene. Although managed with weekly prophylactic FFP infusions, he continued to experience regular bleeding including two further instances of ICH. Other therapeutic options were unavailable or unaffordable. When the Indian Government added FEIBA to the essential drug list, a decision was made to try FEIBA prophylaxis to better manage his bleeding. In 2019, he was started on a weekly dose of FEIBA, 500 IU (20 IU/ kg and his prophylactic FFP transfusion regimen was stopped. His bleeding episodes started to reduce after two months of starting FEIBA prophylaxis. Over the last three years he has had only four minor bleeding episodes and has remained completely free of major bleeding. He is now able to receive home-based therapy and his prognosis can be considered to be improved. FEIBA may be a useful medicinal therapy for FX-deficient patients who suffer severe haemorrhagic episodes in countries where plasma-derived factor X (pdFX) is not available.
遗传因子X (FX)缺乏症是一种罕见的常染色体隐性遗传病，可增加出血倾向，从鼻出血到颅内出血(ICH)，可危及生命。建议使用单因素浓缩物治疗罕见出血性疾病;然而，在印度，大多数患有FX缺乏症的人都用新鲜冷冻血浆(FFP)治疗。我们报告一个病例FX缺乏症的儿童与颅内出血的历史谁被发现有一个新的突变在F10基因。虽然每周预防性输注FFP，但他继续出现常规出血，包括两次脑出血。其他治疗方法要么无法获得，要么负担不起。当印度政府将FEIBA添加到基本药物清单中时，决定尝试FEIBA预防，以更好地管理他的出血。2019年，他开始每周服用FEIBA 500 IU (20 IU/ kg)，并停止了预防性FFP输注方案。他的出血发作开始减少两个月后，开始FEIBA预防。在过去的三年里，他只有四次小出血，而且完全没有大出血。他现在能够接受以家庭为基础的治疗，他的预后可以被认为有所改善。FEIBA可能是血浆源性因子X (pdFX)无法获得的国家中发生严重出血事件的fx缺乏患者的有效药物治疗。
{"title":"Management of a patient with factor X deficiency with FEIBA: a case report","authors":"Luish Borboruah, A. Dutta","doi":"10.2478/jhp-2023-0012","DOIUrl":"https://doi.org/10.2478/jhp-2023-0012","url":null,"abstract":"Abstract Hereditary factor X (FX) deficiency is a rare autosomal recessive disorder that increases bleeding tendencies, ranging from epistaxis to intracranial haemorrhage (ICH), which can be life-threatening. Single factor concentrates are recommended for treating rare bleeding disorders; however, in India most people with FX deficiency are treated with fresh frozen plasma (FFP). We report a case of FX deficiency in a child with a history of intracranial bleeding who was found to have a novel mutation in the F10 gene. Although managed with weekly prophylactic FFP infusions, he continued to experience regular bleeding including two further instances of ICH. Other therapeutic options were unavailable or unaffordable. When the Indian Government added FEIBA to the essential drug list, a decision was made to try FEIBA prophylaxis to better manage his bleeding. In 2019, he was started on a weekly dose of FEIBA, 500 IU (20 IU/ kg and his prophylactic FFP transfusion regimen was stopped. His bleeding episodes started to reduce after two months of starting FEIBA prophylaxis. Over the last three years he has had only four minor bleeding episodes and has remained completely free of major bleeding. He is now able to receive home-based therapy and his prognosis can be considered to be improved. FEIBA may be a useful medicinal therapy for FX-deficient patients who suffer severe haemorrhagic episodes in countries where plasma-derived factor X (pdFX) is not available.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124327794","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 The Contaminated (or Tainted) Blood Scandal was a worldwide event that infected many people, including people with haemophilia (PwH), with blood-borne diseases. This has had a significant psychological impact on the families involved, alongside the physical and financial toll. Although some studies have focused on those directly affected – PwH, their families, and the community – very little is known about the intergenerational impact. This narrative review explores the impact on the children of PwH affected by the contaminated blood, demonstrating a significant gap in the understanding of the families’ experiences.
{"title":"The impact of the Contaminated Blood Scandal on the next generation: the state of the evidence","authors":"Sally-Anne Wherry, Liz Berragan, Ros Jennings","doi":"10.2478/jhp-2023-0003","DOIUrl":"https://doi.org/10.2478/jhp-2023-0003","url":null,"abstract":"Abstract The Contaminated (or Tainted) Blood Scandal was a worldwide event that infected many people, including people with haemophilia (PwH), with blood-borne diseases. This has had a significant psychological impact on the families involved, alongside the physical and financial toll. Although some studies have focused on those directly affected – PwH, their families, and the community – very little is known about the intergenerational impact. This narrative review explores the impact on the children of PwH affected by the contaminated blood, demonstrating a significant gap in the understanding of the families’ experiences.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116933701","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 At the second series of workshops for the EHC Think Tank Workstreams on Registries, Hub and Spoke Model and Patient Agency, stakeholder participants worked towards consensus on addressing challenges to progress in areas identified in the first series of workshops. Each workshop identified a ‘guiding star’ determining the direction of ongoing focus, defined achievable ‘near star’ milestones, and explored the enablers and ‘constraints’ to achieving these. Guiding Stars The Registries Workstream recommended establishing rights- and responsibility-based international guidance to ensure accountability from all stakeholders contributing, collecting, handling and registry data. The Hub and Spoke Model Workstream proposed the development of a dynamic and agile health provision system to meet individual treatment, care and quality of life goals for people with rare disorders as they evolve. The Patient Agency Workstream recommended achieving a new cultural norm for patient agency embedded at all systemic levels, whereby health care is collaborative and based on patients’ ability to make choices and take ownership of decisions relating to their care and quality of life. Near Stars Four common themes emerged in near star milestones across all workstreams: 1. Mapping the system; 2. Collaborating and sharing; 3. Education and training; 4. Organisational change and good governance. Enablers include stakeholder experience in other specialties undergoing similar change; relevant examples of best practice; tapping into existing policy-making networks; adherence to government, regulatory, and inter-/intra-institutional quality standards; leveraging frustration in current systems to challenge mindsets and demonstrate the benefit of patient-centred insights to improve outcomes; and application of technologies (e.g. distributed analytics, algorithms, telemedicine, remote monitoring). Constraints include limited understanding of national and cross-border legal and regulatory requirements; a lack of awareness of and reluctance to accept the need for change or to take responsibility for making it happen, or a misunderstanding of whose responsibility it is; time limitations; a lack of meaningful outcome measures; a lack of understanding of key factors for success; and financial issues.
在EHC智库工作流程关于注册表、Hub and Spoke模型和患者代理的第二系列研讨会上，利益相关方参与者就解决在第一系列研讨会中确定的领域的进展挑战达成共识。每个研讨会都确定了一个“指路之星”，确定了持续关注的方向，定义了可实现的“近星”里程碑，并探讨了实现这些目标的推动因素和“限制因素”。注册管理工作流程建议建立基于权利和责任的国际指导，以确保所有贡献、收集、处理和注册管理数据的利益攸关方承担责任。Hub and Spoke模型工作流程建议开发一个动态和敏捷的卫生提供系统，以满足罕见疾病患者的个体治疗、护理和生活质量目标。患者代理工作流程建议在所有系统层面为患者代理实现一种新的文化规范，即卫生保健是协作的，并基于患者做出选择的能力和对与其护理和生活质量有关的决策的所有权。在所有工作流的Near star里程碑中出现了四个共同的主题:系统映射;2. 协作和共享;3.教育和培训;4. 组织变革和良好治理。促成因素包括利益相关者在经历类似变化的其他专业中的经验;最佳做法的相关例子;利用现有的决策网络;遵守政府、监管机构和机构间/机构内的质量标准;利用当前系统中的挫败感来挑战思维方式，并展示以患者为中心的见解对改善结果的好处;以及技术的应用(如分布式分析、算法、远程医疗、远程监控)。制约因素包括对国家和跨境法律和监管要求的理解有限;缺乏改变的意识，不愿意接受改变的需要，不愿意为改变的发生承担责任，或者对谁的责任有误解;时间限制;缺乏有意义的结果衡量标准;对成功的关键因素缺乏了解;还有财政问题。
{"title":"Short- and longer-term goals for change – A report from the 2nd workshops of the EHC Think Tank Workstreams on Registries, the Hub and Spoke Model and Patient Agency","authors":"A. Bok, D. Noone, Naja Skouw-Rasmussen","doi":"10.2478/jhp-2023-0001","DOIUrl":"https://doi.org/10.2478/jhp-2023-0001","url":null,"abstract":"Abstract At the second series of workshops for the EHC Think Tank Workstreams on Registries, Hub and Spoke Model and Patient Agency, stakeholder participants worked towards consensus on addressing challenges to progress in areas identified in the first series of workshops. Each workshop identified a ‘guiding star’ determining the direction of ongoing focus, defined achievable ‘near star’ milestones, and explored the enablers and ‘constraints’ to achieving these. Guiding Stars The Registries Workstream recommended establishing rights- and responsibility-based international guidance to ensure accountability from all stakeholders contributing, collecting, handling and registry data. The Hub and Spoke Model Workstream proposed the development of a dynamic and agile health provision system to meet individual treatment, care and quality of life goals for people with rare disorders as they evolve. The Patient Agency Workstream recommended achieving a new cultural norm for patient agency embedded at all systemic levels, whereby health care is collaborative and based on patients’ ability to make choices and take ownership of decisions relating to their care and quality of life. Near Stars Four common themes emerged in near star milestones across all workstreams: 1. Mapping the system; 2. Collaborating and sharing; 3. Education and training; 4. Organisational change and good governance. Enablers include stakeholder experience in other specialties undergoing similar change; relevant examples of best practice; tapping into existing policy-making networks; adherence to government, regulatory, and inter-/intra-institutional quality standards; leveraging frustration in current systems to challenge mindsets and demonstrate the benefit of patient-centred insights to improve outcomes; and application of technologies (e.g. distributed analytics, algorithms, telemedicine, remote monitoring). Constraints include limited understanding of national and cross-border legal and regulatory requirements; a lack of awareness of and reluctance to accept the need for change or to take responsibility for making it happen, or a misunderstanding of whose responsibility it is; time limitations; a lack of meaningful outcome measures; a lack of understanding of key factors for success; and financial issues.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128765798","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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