Abstract Haemophilia patients with inhibitors suffer from increased morbidity and mortality due to the ineffectiveness of factor VIII replacement. Pseudotumors are rare but dangerous complications in these patients, and nasal pseudotumors are even rarer. Here, we present the case of a young child with severe haemophilia A with high titre inhibitors who developed a nasal pseudotumor. When immune tolerance therapy was not possible due to financial constraints, he was treated with FEIBA prophylaxis and rituximab. The pseudotumor was managed with surgical excision. We conclude that epistaxis in haemophiliacs can be due to an underlying nasal pseudotumor, and highlight the use of rituximab for the eradication of inhibitors.
{"title":"Case report of nasal pseudotumor – a rare presentation in severe haemophilia A with high titre inhibitors","authors":"P. Mandal, Malini Garg, Debasis Gantait, U. Jana","doi":"10.17225/jhp00172","DOIUrl":"https://doi.org/10.17225/jhp00172","url":null,"abstract":"Abstract Haemophilia patients with inhibitors suffer from increased morbidity and mortality due to the ineffectiveness of factor VIII replacement. Pseudotumors are rare but dangerous complications in these patients, and nasal pseudotumors are even rarer. Here, we present the case of a young child with severe haemophilia A with high titre inhibitors who developed a nasal pseudotumor. When immune tolerance therapy was not possible due to financial constraints, he was treated with FEIBA prophylaxis and rituximab. The pseudotumor was managed with surgical excision. We conclude that epistaxis in haemophiliacs can be due to an underlying nasal pseudotumor, and highlight the use of rituximab for the eradication of inhibitors.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"15 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":"116645172","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 Participants in clinical trials for new haemophilia treatments are routinely asked to complete quality of life (QoL) questionnaires using validated and disease-specific instruments. Yet too often in clinical research we know very little about the life stories of individuals, making it difficult to know how they have been affected by a new therapy and what exactly has changed for the better – or for the worse. In my own research, I wanted to understand the differences that new treatments are really making to people's everyday lives. While traditional QoL instruments can be helpful, using a qualitative approach that involves speaking directly with people with haemophilia (PwH) and their family members has enabled me find out what has really been going on their lives, including impacts on the wider family. The Covid pandemic and the need to maintain social distancing changed the way in which my research has been carried out, but in fact provided an opportunity to see an even bigger picture. I believe that using videoconferencing platforms to conduct interviews and focus groups has both allowed me to see more of the world in which the participants live and has enabled participants to be more relaxed and open in their conversations, resulting in a potentially richer dataset. While this approach to qualitative QoL research should not replace interviews and focus groups, the use of videoconferencing should be considered as another methodology researchers can and should use to enable them to glean the richest data possible. Qualitative interviews offer an important complementary addition to the validated QoL measures used in clinical trials, enabling us to hear more about where improvements have occurred, where further improvements can be made, and the real-life impact of a new treatment for PwH and their families.
{"title":"Seeing the bigger picture: Qualitative research in the Zoom® age","authors":"Simon Fletcher","doi":"10.2478/jhp-2021-0019","DOIUrl":"https://doi.org/10.2478/jhp-2021-0019","url":null,"abstract":"Abstract Participants in clinical trials for new haemophilia treatments are routinely asked to complete quality of life (QoL) questionnaires using validated and disease-specific instruments. Yet too often in clinical research we know very little about the life stories of individuals, making it difficult to know how they have been affected by a new therapy and what exactly has changed for the better – or for the worse. In my own research, I wanted to understand the differences that new treatments are really making to people's everyday lives. While traditional QoL instruments can be helpful, using a qualitative approach that involves speaking directly with people with haemophilia (PwH) and their family members has enabled me find out what has really been going on their lives, including impacts on the wider family. The Covid pandemic and the need to maintain social distancing changed the way in which my research has been carried out, but in fact provided an opportunity to see an even bigger picture. I believe that using videoconferencing platforms to conduct interviews and focus groups has both allowed me to see more of the world in which the participants live and has enabled participants to be more relaxed and open in their conversations, resulting in a potentially richer dataset. While this approach to qualitative QoL research should not replace interviews and focus groups, the use of videoconferencing should be considered as another methodology researchers can and should use to enable them to glean the richest data possible. Qualitative interviews offer an important complementary addition to the validated QoL measures used in clinical trials, enabling us to hear more about where improvements have occurred, where further improvements can be made, and the real-life impact of a new treatment for PwH and their families.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"1 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":"125368035","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 management of patients with haemophilia is complex and requires lifelong care to be delivered by a specialist multidisciplinary team. Haemophilia B results from a deficiency or absence in coagulation factor IX (FIX), leading to easy bruising, and musculoskeletal and internal bleeding. For patients with severe or moderate haemophilia B, prophylaxis with standard half-life (SHL) coagulation FIX products requires frequent intravenous administration, which may negatively impact treatment adherence and increase burden of care. A recombinant fusion protein linking recombinant FIX (rFIX) with recombinant human albumin, rIX-FP, has an extended half-life compared with SHL rFIX, and has demonstrated a favourable safety and efficacy profile for the prevention and treatment of bleeding episodes in phase III and real-world studies of patients with severe haemophilia B. rIX-FP enables treatment to be tailored to the needs of individual patients, with dosing flexibility allowing selected patients to be treated with prophylaxis dosing intervals of 7, 10, 14 or 21 days. Patients switching to rIX-FP can reduce their annualised bleeding rate and some have successfully reduced their prophylactic dosing frequency while maintaining low bleeding rates and consistent factor consumption. This may ultimately minimise the occurrence of haemophilic arthropathy and improve patient quality of life. Educating patients and caregivers on the sustained use of rIX-FP prophylaxis is essential. The lifelong support and guidance provided by healthcare professionals at haemophilia treatment centres (HTCs) are critical for providing an optimal treatment approach that can increase adherence to treatment. This article reviews the pharmacokinetics, efficacy, and safety of rIX-FP demonstrated in clinical trials and clinical practice, and discusses haemophilia nurses’ clinical experiences with rIX-FP in patients in their HTCs.
{"title":"The use of rIX-FP in patients with haemophilia B: a nurse's perspective","authors":"K. Garner, C. Guelcher, D. Pollard","doi":"10.17225/jhp00180","DOIUrl":"https://doi.org/10.17225/jhp00180","url":null,"abstract":"Abstract The management of patients with haemophilia is complex and requires lifelong care to be delivered by a specialist multidisciplinary team. Haemophilia B results from a deficiency or absence in coagulation factor IX (FIX), leading to easy bruising, and musculoskeletal and internal bleeding. For patients with severe or moderate haemophilia B, prophylaxis with standard half-life (SHL) coagulation FIX products requires frequent intravenous administration, which may negatively impact treatment adherence and increase burden of care. A recombinant fusion protein linking recombinant FIX (rFIX) with recombinant human albumin, rIX-FP, has an extended half-life compared with SHL rFIX, and has demonstrated a favourable safety and efficacy profile for the prevention and treatment of bleeding episodes in phase III and real-world studies of patients with severe haemophilia B. rIX-FP enables treatment to be tailored to the needs of individual patients, with dosing flexibility allowing selected patients to be treated with prophylaxis dosing intervals of 7, 10, 14 or 21 days. Patients switching to rIX-FP can reduce their annualised bleeding rate and some have successfully reduced their prophylactic dosing frequency while maintaining low bleeding rates and consistent factor consumption. This may ultimately minimise the occurrence of haemophilic arthropathy and improve patient quality of life. Educating patients and caregivers on the sustained use of rIX-FP prophylaxis is essential. The lifelong support and guidance provided by healthcare professionals at haemophilia treatment centres (HTCs) are critical for providing an optimal treatment approach that can increase adherence to treatment. This article reviews the pharmacokinetics, efficacy, and safety of rIX-FP demonstrated in clinical trials and clinical practice, and discusses haemophilia nurses’ clinical experiences with rIX-FP in patients in their HTCs.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"19 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":"120992035","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}
P. Mandal, Malini Garg, Prantar Chakrabarti, A. Bhowmik, Debasis Gantait, T. Dolai
Abstract Background Haemophilia has been associated with increased prevalence of low bone mineral density (BMD) which in turn may aggravate haemophilic arthropathy. Dual-energy X-ray absorptiometry (DEXA) is the gold standard for assessing BMD but is not widely available across India. Markers of bone turnover like bone-specific alkaline phosphatase (b-ALP) reflect osteoblastic turnover and may be surrogate to low BMD. Aim To evaluate how bone health in people with haemophilia (PWH) can be assessed by serum vitamin D3 and b-ALP level, correlated with the degree of arthropathy. Methods In this cross-sectional study, people with haemophilia A and B of all severities with arthropathy involving ≥3 joints were included. The number of joints affected by haemophilic arthropathy was recorded. Hemophilia Joint Health Score (HJHS) and Pettersson score were calculated for each patient. Levels of serum calcium, phosphorus, vitamin D3 and b-ALP were assayed in all cases. Results A total of 320 PWH were included; the majority (85%; 272/320) had severe haemophilia, 13.44% (43/320) moderate haemophilia and 1.56% (5/320) mild haemophilia. With increasing age, the number of joints involved increased significantly (r=0.2250, p<0.05). When adjusted for age, b-ALP was higher than normal for the majority of PWH (88.75%). Increased number of joints involved and severity of disease had a positive correlation with higher-than-normal b-ALP (adjusted for age) (r=0.2112, p=0.0001). A significant positive correlation was seen between Pettersson score and HJHS score (r=0.1126, p=0.04). There was no significant correlation between number of joints involved and serum vitamin D3 level across the whole cohort. (p<0.05). Conclusion PWH with severe disease and haemophilic arthropathy have higher than normal b-ALP, which in turn reflects increased bone turn over and low BMD. Hence, b-ALP may be a useful marker to help assess bone health in PWH, particularly in settings where access to DEXA scans is constrained.
{"title":"Bone health assessment in haemophilic arthropathy: A single centre study from Kolkata, West Bengal, India","authors":"P. Mandal, Malini Garg, Prantar Chakrabarti, A. Bhowmik, Debasis Gantait, T. Dolai","doi":"10.2478/jhp-2021-0018","DOIUrl":"https://doi.org/10.2478/jhp-2021-0018","url":null,"abstract":"Abstract Background Haemophilia has been associated with increased prevalence of low bone mineral density (BMD) which in turn may aggravate haemophilic arthropathy. Dual-energy X-ray absorptiometry (DEXA) is the gold standard for assessing BMD but is not widely available across India. Markers of bone turnover like bone-specific alkaline phosphatase (b-ALP) reflect osteoblastic turnover and may be surrogate to low BMD. Aim To evaluate how bone health in people with haemophilia (PWH) can be assessed by serum vitamin D3 and b-ALP level, correlated with the degree of arthropathy. Methods In this cross-sectional study, people with haemophilia A and B of all severities with arthropathy involving ≥3 joints were included. The number of joints affected by haemophilic arthropathy was recorded. Hemophilia Joint Health Score (HJHS) and Pettersson score were calculated for each patient. Levels of serum calcium, phosphorus, vitamin D3 and b-ALP were assayed in all cases. Results A total of 320 PWH were included; the majority (85%; 272/320) had severe haemophilia, 13.44% (43/320) moderate haemophilia and 1.56% (5/320) mild haemophilia. With increasing age, the number of joints involved increased significantly (r=0.2250, p<0.05). When adjusted for age, b-ALP was higher than normal for the majority of PWH (88.75%). Increased number of joints involved and severity of disease had a positive correlation with higher-than-normal b-ALP (adjusted for age) (r=0.2112, p=0.0001). A significant positive correlation was seen between Pettersson score and HJHS score (r=0.1126, p=0.04). There was no significant correlation between number of joints involved and serum vitamin D3 level across the whole cohort. (p<0.05). Conclusion PWH with severe disease and haemophilic arthropathy have higher than normal b-ALP, which in turn reflects increased bone turn over and low BMD. Hence, b-ALP may be a useful marker to help assess bone health in PWH, particularly in settings where access to DEXA scans is constrained.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"138 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":"126694105","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 A growing body of evidence supports the recommendation of both physiotherapy and physical activity in people with haemophilia. Physical benefits include increasing strength and flexibility and reducing the risks of osteoporosis, arthropathy, and intramuscular and joint bleeds; social benefits have also been observed. However, anecdotal evidence suggests that people with haemophilia may still be averse to engaging with physical activity due to fears of causing bleeding, joint pain and joint damage. Methodology Qualitative interviews were conducted with young men with haemophilia treated at comprehensive care centres in London, to explore and identify the reasons behind risk-averse behaviours towards exercise and physical activity. The interview questions were designed to prompt discussion and capture opinions relating to participants’ physical activity and gym membership/use, and the degree to which their haemophilia impacts on both. Results Ten participants were interviewed. Preferred activities were variable, with five participants describing themselves as very physically active, three moderately active, and two reporting little physical activity; four described themselves as ‘not gym-confident’. Seven participants described themselves as highly or moderately motivated to undertake physical activity, with motivations including weight loss and getting fit for summer holidays. However, there was some anxiety around weight-bearing exercise due to the fear of pain or injury. All participants had been exposed to personal trainers (PTs) and recognised the importance of being properly introduced to training equipment but felt that PTs were too expensive for them. The majority of participants reported sports-related injuries and self-perceived limitations on activity due to their personal/individual experience of living with haemophlia. Physiotherapists were often the first point of contact for advice and support on safe physical activity. All participants recognised the benefits of physical activity and had been encouraged in this by their physiotherapists. Conclusion Young men with haemophilia are keen to use the gym as part of their personal fitness regimens. The ongoing safety concerns of health care professionals warrants further research.
{"title":"Perceptions and attitudes towards gym use and physical activity in young men with haemophilia","authors":"Luke Pembroke, Laurence Woollard","doi":"10.17225/jhp00164","DOIUrl":"https://doi.org/10.17225/jhp00164","url":null,"abstract":"Abstract Introduction A growing body of evidence supports the recommendation of both physiotherapy and physical activity in people with haemophilia. Physical benefits include increasing strength and flexibility and reducing the risks of osteoporosis, arthropathy, and intramuscular and joint bleeds; social benefits have also been observed. However, anecdotal evidence suggests that people with haemophilia may still be averse to engaging with physical activity due to fears of causing bleeding, joint pain and joint damage. Methodology Qualitative interviews were conducted with young men with haemophilia treated at comprehensive care centres in London, to explore and identify the reasons behind risk-averse behaviours towards exercise and physical activity. The interview questions were designed to prompt discussion and capture opinions relating to participants’ physical activity and gym membership/use, and the degree to which their haemophilia impacts on both. Results Ten participants were interviewed. Preferred activities were variable, with five participants describing themselves as very physically active, three moderately active, and two reporting little physical activity; four described themselves as ‘not gym-confident’. Seven participants described themselves as highly or moderately motivated to undertake physical activity, with motivations including weight loss and getting fit for summer holidays. However, there was some anxiety around weight-bearing exercise due to the fear of pain or injury. All participants had been exposed to personal trainers (PTs) and recognised the importance of being properly introduced to training equipment but felt that PTs were too expensive for them. The majority of participants reported sports-related injuries and self-perceived limitations on activity due to their personal/individual experience of living with haemophlia. Physiotherapists were often the first point of contact for advice and support on safe physical activity. All participants recognised the benefits of physical activity and had been encouraged in this by their physiotherapists. Conclusion Young men with haemophilia are keen to use the gym as part of their personal fitness regimens. The ongoing safety concerns of health care professionals warrants further research.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"67 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126286652","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}
F. Galiba Atipo Tsiba, OL Ngolet, N. Ngakengni, L. O. Ollandzobo Ikobo, JV Nziengui-Mboumba, A. Elira Dokékias
Abstract Introduction Haemophilia is a rare hereditary haemorrhagic disease caused by coagulation factor VIII (haemophilia A) or IX (haemophilia B) deficiency. Very few data exist on this disease in Congo. This survey aims to describe the epidemiological and clinical aspects of the children affected. Materials and methods A descriptive cross-sectional study was carried out in the haematology department of the Brazzaville University Hospital over a period of two years. Children (under 18 years of age) with haemophilia and with a factor VIII or IX level less than or equal to 30% were identified. The parameters analysed included age, diagnostic delay, type and severity of haemophilia, type and frequency of bleeding manifestations, complications and history of transfusion. Results Nineteen patients were identified with an average age at diagnosis of four years. The average time to diagnosis was six years, and the most frequent first known bleeding episode was haemorrhage during circumcision. Family history was found in 14 cases. There were 13 cases of haemophilia A and six cases of haemophilia B. Fourteen cases were severe haemophilia; no mild cases were identified. Haemorrhagic manifestations included haemarthrosis, haematomas and mucocutaneous haemorrhages. The average number of haemorrhagic episodes per year was 12. Haemophilic arthropathy was present at diagnosis in seven cases, with the main location being the knee. The average number of hospitalisations before diagnosis was two. Sixteen patients had been transfused at least once. Conclusion Although circumcision is the most frequent first known haemorrhagic manifestation of haemophilia in Congo, patients are often diagnosed late, sometimes with severe osteoarticular complications. Further measures are needed to help ensure early diagnosis and improve care.
{"title":"Clinical profile of children with haemophilia at the University Hospital of Brazzaville","authors":"F. Galiba Atipo Tsiba, OL Ngolet, N. Ngakengni, L. O. Ollandzobo Ikobo, JV Nziengui-Mboumba, A. Elira Dokékias","doi":"10.17225/jhp00159","DOIUrl":"https://doi.org/10.17225/jhp00159","url":null,"abstract":"Abstract Introduction Haemophilia is a rare hereditary haemorrhagic disease caused by coagulation factor VIII (haemophilia A) or IX (haemophilia B) deficiency. Very few data exist on this disease in Congo. This survey aims to describe the epidemiological and clinical aspects of the children affected. Materials and methods A descriptive cross-sectional study was carried out in the haematology department of the Brazzaville University Hospital over a period of two years. Children (under 18 years of age) with haemophilia and with a factor VIII or IX level less than or equal to 30% were identified. The parameters analysed included age, diagnostic delay, type and severity of haemophilia, type and frequency of bleeding manifestations, complications and history of transfusion. Results Nineteen patients were identified with an average age at diagnosis of four years. The average time to diagnosis was six years, and the most frequent first known bleeding episode was haemorrhage during circumcision. Family history was found in 14 cases. There were 13 cases of haemophilia A and six cases of haemophilia B. Fourteen cases were severe haemophilia; no mild cases were identified. Haemorrhagic manifestations included haemarthrosis, haematomas and mucocutaneous haemorrhages. The average number of haemorrhagic episodes per year was 12. Haemophilic arthropathy was present at diagnosis in seven cases, with the main location being the knee. The average number of hospitalisations before diagnosis was two. Sixteen patients had been transfused at least once. Conclusion Although circumcision is the most frequent first known haemorrhagic manifestation of haemophilia in Congo, patients are often diagnosed late, sometimes with severe osteoarticular complications. Further measures are needed to help ensure early diagnosis and improve care.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122690093","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. Hughes, Mikkel Brok-Kristensen, Yosha Gargeya, Anne Mette Worsøe Lottrup, Ask Bo Larsen, A. Torres-Ortuño, N. Mackett, J. Stevens
Abstract Background Recent treatment option advances in haemophilia care have contributed to a discourse of ‘normality’ around the condition, in which people with haemophilia (PwH) are increasingly expected to live ‘normal’ lives unburdened by their condition. Aim The aim of this article is to explore notions of ‘normality’ in the experience of haemophilia across generations. This is one of the main themes identified in a large-scale ethnographic study of the everyday life of PwH, a broad qualitative investigation of beliefs and experiences related to condition, treatment, and personal ways of managing the condition. Methods The study used ethnographic research methods. Five haemophilia experts helped frame the research design by contributing historical and disease area context prior to the initiation of field research. PwH were recruited through patient organisations in five European countries (Italy, Germany, Spain, UK and Ireland). During field research, study researchers collected data through 8–12 hours of participant observation, semi-structured interviews, written exercises, facilitated group dialogues, and on-site observations of PwH interactions with friends, family, and health care professionals (HCPs). They also conducted on-site observation at haemophilia treatment centres (HTCs) and HCP interviews. The study employed a multi-tiered grounded theory approach and combined data were analysed using techniques such as inductive and deductive analysis, cross-case analysis, challenges mapping, and clustering exercises. This article explores findings related to the discourse of ‘normality’ and is thus focused on a subset of the data from the study. Results Fifty-one PwH, aged 1.5 to 82 years, were interviewed and followed in their daily lives. Six treatment centres were visited, and 18 HCPs were interviewed. The study found that a discourse of present day ‘normality’, as compared to a difficult past, is ingrained in the haemophilia community. As a result, unlike most older PwH (40+), younger PwH (under 18) are not always taught to acknowledge the severity of their condition or how to sense bleeds (disease-related embodied knowledge), and risk unknowingly doing long-term damage to their bodies. Twenty-seven per cent (n=7/26) of younger PwH (children, teenagers) in the study were observed or described as engaging in high-risk behaviours in the short term indicating a lack understanding of long-term consequences. Conclusions These findings suggest that the discourse of ‘normality’ presents a number of challenges that need to be addressed, namely the potential for younger PwH to be unaware of bleeds and the general underreporting of haemophilia-related complications and limitations. One way forward in realising the full potential of advanced treatment could be to teach young PwH, through evidence-based initiatives, how to develop an embodied sense of their bleeds. Furthermore, if the current state of life with haemophilia is accepted as finally ‘
{"title":"“He's a normal kid now”: an ethnographic study of challenges and possibilities in a new era of haemophilia care","authors":"T. Hughes, Mikkel Brok-Kristensen, Yosha Gargeya, Anne Mette Worsøe Lottrup, Ask Bo Larsen, A. Torres-Ortuño, N. Mackett, J. Stevens","doi":"10.17225/jhp00167","DOIUrl":"https://doi.org/10.17225/jhp00167","url":null,"abstract":"Abstract Background Recent treatment option advances in haemophilia care have contributed to a discourse of ‘normality’ around the condition, in which people with haemophilia (PwH) are increasingly expected to live ‘normal’ lives unburdened by their condition. Aim The aim of this article is to explore notions of ‘normality’ in the experience of haemophilia across generations. This is one of the main themes identified in a large-scale ethnographic study of the everyday life of PwH, a broad qualitative investigation of beliefs and experiences related to condition, treatment, and personal ways of managing the condition. Methods The study used ethnographic research methods. Five haemophilia experts helped frame the research design by contributing historical and disease area context prior to the initiation of field research. PwH were recruited through patient organisations in five European countries (Italy, Germany, Spain, UK and Ireland). During field research, study researchers collected data through 8–12 hours of participant observation, semi-structured interviews, written exercises, facilitated group dialogues, and on-site observations of PwH interactions with friends, family, and health care professionals (HCPs). They also conducted on-site observation at haemophilia treatment centres (HTCs) and HCP interviews. The study employed a multi-tiered grounded theory approach and combined data were analysed using techniques such as inductive and deductive analysis, cross-case analysis, challenges mapping, and clustering exercises. This article explores findings related to the discourse of ‘normality’ and is thus focused on a subset of the data from the study. Results Fifty-one PwH, aged 1.5 to 82 years, were interviewed and followed in their daily lives. Six treatment centres were visited, and 18 HCPs were interviewed. The study found that a discourse of present day ‘normality’, as compared to a difficult past, is ingrained in the haemophilia community. As a result, unlike most older PwH (40+), younger PwH (under 18) are not always taught to acknowledge the severity of their condition or how to sense bleeds (disease-related embodied knowledge), and risk unknowingly doing long-term damage to their bodies. Twenty-seven per cent (n=7/26) of younger PwH (children, teenagers) in the study were observed or described as engaging in high-risk behaviours in the short term indicating a lack understanding of long-term consequences. Conclusions These findings suggest that the discourse of ‘normality’ presents a number of challenges that need to be addressed, namely the potential for younger PwH to be unaware of bleeds and the general underreporting of haemophilia-related complications and limitations. One way forward in realising the full potential of advanced treatment could be to teach young PwH, through evidence-based initiatives, how to develop an embodied sense of their bleeds. Furthermore, if the current state of life with haemophilia is accepted as finally ‘","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"416 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133323082","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}
G. Pedra, P. Christoffersen, K. Khair, X. Y. Lee, Sonia O’Hara, J. O’Hara, J. Pasi
Abstract Background Some studies suggest that people with haemophilia (PwH) who use prophylaxis value low frequency of clotting factor administration more than a lower risk of bleeding. However, more frequent infusions offer the potential of reducing joint disease and pain, which in turn may improve functioning and quality of life. Aims To explore the impact on health-related quality of life (HRQoL) aspects of haemophilia associated with adherence and annual infusion rate in the context of factors influencing treatment that are important to patients, including prophylaxis, chronic pain, concomitant conditions and hospital admission. Materials and methods HRQoL was assessed in participants with severe haemophilia in the ‘Cost of Haemophilia in Europe: a Socioeconomic Survey’ (CHESS) study who were using prophylaxis. Patients using on-demand treatment were excluded. This multivariate analysis examined the interaction between factors potentially influencing treatment and HRQoL, and minor and major bleeds. Results From the total CHESS population (n=1,285), 338 (26%) participants provided responses for major and minor bleeds and target joints, and 145 (11%) provided EQ-5D-3L responses. Major and minor bleeds were associated with pain. Patients with severe chronic pain reported a substantial negative impact on HRQoL; but this was significantly improved by increases in the annual infusion rate. This was not apparent in participants with mild or moderate pain. Conclusion Increasing the frequency of prophylaxis infusions is associated with improved quality of life in PwH who have severe chronic pain. However, increasing the number of infusions per week in those with mild or moderate chronic pain with the intention of improving prophylactic effect may not have the same effect.
{"title":"The impact of factor infusion frequency on health-related quality of life in people with haemophilia","authors":"G. Pedra, P. Christoffersen, K. Khair, X. Y. Lee, Sonia O’Hara, J. O’Hara, J. Pasi","doi":"10.17225/jhp00158","DOIUrl":"https://doi.org/10.17225/jhp00158","url":null,"abstract":"Abstract Background Some studies suggest that people with haemophilia (PwH) who use prophylaxis value low frequency of clotting factor administration more than a lower risk of bleeding. However, more frequent infusions offer the potential of reducing joint disease and pain, which in turn may improve functioning and quality of life. Aims To explore the impact on health-related quality of life (HRQoL) aspects of haemophilia associated with adherence and annual infusion rate in the context of factors influencing treatment that are important to patients, including prophylaxis, chronic pain, concomitant conditions and hospital admission. Materials and methods HRQoL was assessed in participants with severe haemophilia in the ‘Cost of Haemophilia in Europe: a Socioeconomic Survey’ (CHESS) study who were using prophylaxis. Patients using on-demand treatment were excluded. This multivariate analysis examined the interaction between factors potentially influencing treatment and HRQoL, and minor and major bleeds. Results From the total CHESS population (n=1,285), 338 (26%) participants provided responses for major and minor bleeds and target joints, and 145 (11%) provided EQ-5D-3L responses. Major and minor bleeds were associated with pain. Patients with severe chronic pain reported a substantial negative impact on HRQoL; but this was significantly improved by increases in the annual infusion rate. This was not apparent in participants with mild or moderate pain. Conclusion Increasing the frequency of prophylaxis infusions is associated with improved quality of life in PwH who have severe chronic pain. However, increasing the number of infusions per week in those with mild or moderate chronic pain with the intention of improving prophylactic effect may not have the same effect.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"319 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133366580","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 Haemophilia nurses in the UK are instrumental in supporting people with haemophilia in self-management, including managing treatment options, recording treatment use and understanding the budgetary impact of prescribing practice. The widespread use of prophylaxis identified haemophilia as a high cost disorder to treat, resulting in a financially successful national tendering process with increased scrutiny of clotting factor use at both individual and haemophilia treatment centre level. The UK tenders, undertaken at a national level every three years, have ensured access to current and new therapies at the most cost-effective price through economies of scale in committing to purchase large volumes from suppliers. In the 2018 tendering round, NovoEight® (NovoNordisk) was added to the prescribing list and other recombinant factors were withdrawn, resulting in changes in prescribing for individual people with haemophilia. This ‘switching’ process is not uncommon in the UK, where national tenders have been in place since 2004. However, the unseen additional workload for nurses, driven by the demands of timely switching to meet product volumes and contracts, has never been captured. During the 2018 switch we interviewed 11 nurses and one operational manager from haemophilia centres across the UK to identify the barriers and facilitators to instigating this change. Ultimately the switching was completed in a timely manner, demonstrating significant cost reductions for factor concentrates. The unseen workload of the nurse – identifying which patients should have their product switched, discussion with and education of patients/families, adjusting prescriptions for home delivery of clotting factor concentrates and stock management and control to avoid waste, and organising the necessary additional clinic visits – was identified and costed based on salary per hour. Nurses remained positive that they were able to undertake this additional role but recognised that, with no specific national guidance regarding product choice, there may have inevitably been differences in approach between treatment centres.
{"title":"Switching factor products: nurses’ experience with NovoEight","authors":"D. Pollard, K. Khair, M. Holland","doi":"10.17225/jhp00156","DOIUrl":"https://doi.org/10.17225/jhp00156","url":null,"abstract":"Abstract Haemophilia nurses in the UK are instrumental in supporting people with haemophilia in self-management, including managing treatment options, recording treatment use and understanding the budgetary impact of prescribing practice. The widespread use of prophylaxis identified haemophilia as a high cost disorder to treat, resulting in a financially successful national tendering process with increased scrutiny of clotting factor use at both individual and haemophilia treatment centre level. The UK tenders, undertaken at a national level every three years, have ensured access to current and new therapies at the most cost-effective price through economies of scale in committing to purchase large volumes from suppliers. In the 2018 tendering round, NovoEight® (NovoNordisk) was added to the prescribing list and other recombinant factors were withdrawn, resulting in changes in prescribing for individual people with haemophilia. This ‘switching’ process is not uncommon in the UK, where national tenders have been in place since 2004. However, the unseen additional workload for nurses, driven by the demands of timely switching to meet product volumes and contracts, has never been captured. During the 2018 switch we interviewed 11 nurses and one operational manager from haemophilia centres across the UK to identify the barriers and facilitators to instigating this change. Ultimately the switching was completed in a timely manner, demonstrating significant cost reductions for factor concentrates. The unseen workload of the nurse – identifying which patients should have their product switched, discussion with and education of patients/families, adjusting prescriptions for home delivery of clotting factor concentrates and stock management and control to avoid waste, and organising the necessary additional clinic visits – was identified and costed based on salary per hour. Nurses remained positive that they were able to undertake this additional role but recognised that, with no specific national guidance regarding product choice, there may have inevitably been differences in approach between treatment centres.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"144 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126973122","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. Hughes, Mikkel Brok-Kristensen, Yosha Gargeya, Anne Mette Worsøe Lottrup, Ask Bo Larsen, A. Torres-Ortuño, N. Mackett, J. Stevens
Abstract Background Haemophilia treatment has improved life expectancy as well as lowered annual bleed rates and treatment burden for recent generations of people with haemophilia (PwH). However, PwH still face significant disease-related challenges on a day-to-day basis. Aims The aim of the present study was to explore the everyday life of PwH, including their beliefs and experiences related to their condition, their treatment, the challenges they face, and their ways of managing their condition. Materials and methods PwH were recruited through patient organisations in five European countries (Italy, Germany, Spain, UK and Ireland). Between 8–12 hours were spent with each person with haemophilia and/or their family, to follow them in their daily lives. Patient consultations with health care professionals (HCPs) were also observed when it was agreed in advance by both parties. In addition, HCPs were interviewed and haemophilia treatment centres (HTCs) were visited. Data were collected through semi-structured interviews, written exercises, facilitated group dialogues, and on-site observations of the interactions of PwH with friends, family, and HCPs. Results Research was conducted with 42 people with haemophilia A and 9 people with haemophilia B, between 1.5 and 82 years of age. Interviews often included the wider social ecology of each PwH, including friends, family, and caregivers. In addition, 18 HCPs from seven HTCs were interviewed (on-site observation was carried out at six HTCs). The study found that despite treatment adherence and advances in treatment approaches, many PwH may be suboptimally protected and still experienced regular bleeds, pain and restrictions in their daily life. Moreover, many had built a narrative of normalcy around this way of living with haemophilia, and as such these issues are an expected and neglected reality of living with haemophilia today. Conclusions The results of this research indicate the need for more personalised and optimised treatment approaches which are better adapted to personal and life-stage specific challenges of PwH. Such an approach could help reduce challenges for PwH, their families, and the health care system, and further research into such approaches would be valuable.
{"title":"“What more can we ask for?”: an ethnographic study of challenges and possibilities for people living with haemophilia","authors":"T. Hughes, Mikkel Brok-Kristensen, Yosha Gargeya, Anne Mette Worsøe Lottrup, Ask Bo Larsen, A. Torres-Ortuño, N. Mackett, J. Stevens","doi":"10.17225/jhp00151","DOIUrl":"https://doi.org/10.17225/jhp00151","url":null,"abstract":"Abstract Background Haemophilia treatment has improved life expectancy as well as lowered annual bleed rates and treatment burden for recent generations of people with haemophilia (PwH). However, PwH still face significant disease-related challenges on a day-to-day basis. Aims The aim of the present study was to explore the everyday life of PwH, including their beliefs and experiences related to their condition, their treatment, the challenges they face, and their ways of managing their condition. Materials and methods PwH were recruited through patient organisations in five European countries (Italy, Germany, Spain, UK and Ireland). Between 8–12 hours were spent with each person with haemophilia and/or their family, to follow them in their daily lives. Patient consultations with health care professionals (HCPs) were also observed when it was agreed in advance by both parties. In addition, HCPs were interviewed and haemophilia treatment centres (HTCs) were visited. Data were collected through semi-structured interviews, written exercises, facilitated group dialogues, and on-site observations of the interactions of PwH with friends, family, and HCPs. Results Research was conducted with 42 people with haemophilia A and 9 people with haemophilia B, between 1.5 and 82 years of age. Interviews often included the wider social ecology of each PwH, including friends, family, and caregivers. In addition, 18 HCPs from seven HTCs were interviewed (on-site observation was carried out at six HTCs). The study found that despite treatment adherence and advances in treatment approaches, many PwH may be suboptimally protected and still experienced regular bleeds, pain and restrictions in their daily life. Moreover, many had built a narrative of normalcy around this way of living with haemophilia, and as such these issues are an expected and neglected reality of living with haemophilia today. Conclusions The results of this research indicate the need for more personalised and optimised treatment approaches which are better adapted to personal and life-stage specific challenges of PwH. Such an approach could help reduce challenges for PwH, their families, and the health care system, and further research into such approaches would be valuable.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"116 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127450833","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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