Anisha M. Patel, Wendy E. Owens, K. Poulos, K. Raimundo, G. Wong, J. Bernard, Janet Powers, R. Ko
Abstract Background Emicizumab is a bispecific monoclonal antibody approved in the United States (US) for the treatment of people with haemophilia A (PwHA) with or without factor VIII (FVIII) inhibitors. Changes to haematologists’ practices since the approval of emicizumab are of interest to the haemophilia A community. Aim To identify the clinical characteristics of PwHA receiving emicizumab (PwHArE) in the real-world setting and gain insight into the disease management practices of haematologists treating PwHArE. Methods In total, 50 haematologists across the US completed a one-time, 30-minute, online, qualitative survey consisting of 55 questions (including 11 screening questions) in May 2019. Haematologists were required to be board-certified in haematology, practising in the US, ≥2 years post-residency experience, and currently treating ≥3 PwHA with emicizumab. Results Haematologists reported their PwHArE were mostly adults (aged ≥18 years; 66%) with severe phenotypes (66%), with and without FVIII inhibitors. Haematologists perceived that PwHArE had similar or better treatment adherence (40% and 50%, respectively) compared with PwHA on other treatments, sought the same or lower levels of routine care (72% and 14%, respectively), and were similarly or more physically active (52% and 32%, respectively). Additionally, most haematologists currently using immune tolerance induction (ITI) in PwHArE reported using lower doses of FVIII (73%) and shorter durations (45%) for ITI. Conclusions Availability of emicizumab has resulted in changes in the care of PwHArE, including bleed management, FVIII monitoring, activity guidance, surgery, and use of ITI. Understanding patterns of disease management can inform clinical care.
{"title":"Haemophilia A management with emicizumab: A survey of haematologists in the United States","authors":"Anisha M. Patel, Wendy E. Owens, K. Poulos, K. Raimundo, G. Wong, J. Bernard, Janet Powers, R. Ko","doi":"10.2478/jhp-2021-0017","DOIUrl":"https://doi.org/10.2478/jhp-2021-0017","url":null,"abstract":"Abstract Background Emicizumab is a bispecific monoclonal antibody approved in the United States (US) for the treatment of people with haemophilia A (PwHA) with or without factor VIII (FVIII) inhibitors. Changes to haematologists’ practices since the approval of emicizumab are of interest to the haemophilia A community. Aim To identify the clinical characteristics of PwHA receiving emicizumab (PwHArE) in the real-world setting and gain insight into the disease management practices of haematologists treating PwHArE. Methods In total, 50 haematologists across the US completed a one-time, 30-minute, online, qualitative survey consisting of 55 questions (including 11 screening questions) in May 2019. Haematologists were required to be board-certified in haematology, practising in the US, ≥2 years post-residency experience, and currently treating ≥3 PwHA with emicizumab. Results Haematologists reported their PwHArE were mostly adults (aged ≥18 years; 66%) with severe phenotypes (66%), with and without FVIII inhibitors. Haematologists perceived that PwHArE had similar or better treatment adherence (40% and 50%, respectively) compared with PwHA on other treatments, sought the same or lower levels of routine care (72% and 14%, respectively), and were similarly or more physically active (52% and 32%, respectively). Additionally, most haematologists currently using immune tolerance induction (ITI) in PwHArE reported using lower doses of FVIII (73%) and shorter durations (45%) for ITI. Conclusions Availability of emicizumab has resulted in changes in the care of PwHArE, including bleed management, FVIII monitoring, activity guidance, surgery, and use of ITI. Understanding patterns of disease management can inform clinical care.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"59 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":"131407622","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}
E. Davies, Luke Carter-Brzezinski, Margarita Traintafillou, Rachel Brown, C. Hay
Abstract With the increased life expectancies of people with severe haemophilia A, diagnoses of disorders associated with increased age are likely to become more common. Multiple myeloma is a commonly diagnosed plasma cell dyscrasia, with incidence strongly related to age. Both the disease itself and specific myeloma therapies are associated with a significant increase in rates of venous thromboembolism (VTE). Management of VTE prophylaxis can be challenging, especially in patients with a bleeding disorder. In this case report, we describe the management of a patient with concurrent diagnosis of multiple myeloma and severe haemophilia A, undergoing first line myeloma chemotherapy. The patient was successfully managed on standard of care myeloma treatment, with use of emicizumab and venous thromboprophylaxis. This case demonstrates the successful management of a haematological malignancy and a bleeding disorder using integrated and multidisciplinary patient-focused care.
{"title":"Management of multiple myeloma in a patient with haemophilia with concurrent emicizumab – case report","authors":"E. Davies, Luke Carter-Brzezinski, Margarita Traintafillou, Rachel Brown, C. Hay","doi":"10.2478/jhp-2021-0016","DOIUrl":"https://doi.org/10.2478/jhp-2021-0016","url":null,"abstract":"Abstract With the increased life expectancies of people with severe haemophilia A, diagnoses of disorders associated with increased age are likely to become more common. Multiple myeloma is a commonly diagnosed plasma cell dyscrasia, with incidence strongly related to age. Both the disease itself and specific myeloma therapies are associated with a significant increase in rates of venous thromboembolism (VTE). Management of VTE prophylaxis can be challenging, especially in patients with a bleeding disorder. In this case report, we describe the management of a patient with concurrent diagnosis of multiple myeloma and severe haemophilia A, undergoing first line myeloma chemotherapy. The patient was successfully managed on standard of care myeloma treatment, with use of emicizumab and venous thromboprophylaxis. This case demonstrates the successful management of a haematological malignancy and a bleeding disorder using integrated and multidisciplinary patient-focused care.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"110 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":"114588881","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 Pain is recognised as a subjective phenomenon, often defined as ‘whatever the experiencing person says it is, existing whenever the experiencing person says it does’. Pain is a critical aspect of life for many people with haemophilia (PWH) but is under-recognised and inconsistently managed by clinicians. As haemophilia management moves towards non-factor-based treatments which may normalise life experience, it is unclear how this will impact on the experience and management of pain. Aims The Perceptions of Pain in Haemophilia study aimed to identify the impact of pain on men with haemophilia in the UK. Methods The study used mixed qualitative research methods (paper-based questionnaires and focus group interviews). Eligible PWH aged >18 years were invited to participate in a focus group to discuss pain, assessment and management. Each focus group discussion was recorded, transcribed and analysed thematically. Results Eighteen participants (13 haemophilia A (12 severe) and 5 severe haemophilia B) age range 18–58 years (median 32.5 years) joined focus groups conducted using an online video platform. The majority (95%) were treated with prophylaxis and reported few recent bleeds. Three main themes emerged: the impact of pain, managing pain, and factors influencing the experience of pain. Participants connected their earliest experiences of pain with childhood; it impacted their mental health and wellbeing, daily habits, routines, sports, hobbies, social life, work and education. Participants recognised the difference between the pain of acute bleeds and arthritic pain. Many did not like taking strong analgesics due to side-effects and concerns around addiction. Participants doubted the value of pain scales and noted a lack of empathy and understanding among health care professionals (HCPs), but valued physiotherapists. Participants recognised the value of talking about the negative impact of their pain experiences; however, they reported that family members, who often provided the most support, could not always truly understand their pain. Conclusion Pain is ‘normal’ for PWH, who adopt it into part of their everyday life experience. HCPs are ideally placed to impact this experience but seem to lack insight as to the extent of pain and how to manage it beyond prescribing stronger analgesia. The social and psychological implications of chronic pain should be better addressed by HCPs. This includes being cognisant that new therapeutic options will not resolve old pain.
{"title":"“It's a way of life”: Results from the Perceptions of Pain in Haemophilia study","authors":"K. Khair, Jarek Kriukow, M. Holland","doi":"10.2478/jhp-2021-0020","DOIUrl":"https://doi.org/10.2478/jhp-2021-0020","url":null,"abstract":"Abstract Introduction Pain is recognised as a subjective phenomenon, often defined as ‘whatever the experiencing person says it is, existing whenever the experiencing person says it does’. Pain is a critical aspect of life for many people with haemophilia (PWH) but is under-recognised and inconsistently managed by clinicians. As haemophilia management moves towards non-factor-based treatments which may normalise life experience, it is unclear how this will impact on the experience and management of pain. Aims The Perceptions of Pain in Haemophilia study aimed to identify the impact of pain on men with haemophilia in the UK. Methods The study used mixed qualitative research methods (paper-based questionnaires and focus group interviews). Eligible PWH aged >18 years were invited to participate in a focus group to discuss pain, assessment and management. Each focus group discussion was recorded, transcribed and analysed thematically. Results Eighteen participants (13 haemophilia A (12 severe) and 5 severe haemophilia B) age range 18–58 years (median 32.5 years) joined focus groups conducted using an online video platform. The majority (95%) were treated with prophylaxis and reported few recent bleeds. Three main themes emerged: the impact of pain, managing pain, and factors influencing the experience of pain. Participants connected their earliest experiences of pain with childhood; it impacted their mental health and wellbeing, daily habits, routines, sports, hobbies, social life, work and education. Participants recognised the difference between the pain of acute bleeds and arthritic pain. Many did not like taking strong analgesics due to side-effects and concerns around addiction. Participants doubted the value of pain scales and noted a lack of empathy and understanding among health care professionals (HCPs), but valued physiotherapists. Participants recognised the value of talking about the negative impact of their pain experiences; however, they reported that family members, who often provided the most support, could not always truly understand their pain. Conclusion Pain is ‘normal’ for PWH, who adopt it into part of their everyday life experience. HCPs are ideally placed to impact this experience but seem to lack insight as to the extent of pain and how to manage it beyond prescribing stronger analgesia. The social and psychological implications of chronic pain should be better addressed by HCPs. This includes being cognisant that new therapeutic options will not resolve old pain.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"17 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":"132544484","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. Chaplin, Maj Friberg Birkedal, E. Crilly, Simon Fletcher, Sara Garcia, G. Mulders, L. Myrin-Westesson, D. Pollard, Anna Sanigorska, N. Uitslager
Abstract Introduction Some clinicians believe that haemophilia B is associated with less bleeding than haemophilia A, yet there appears to be little difference in health-related outcomes. Current clinical practice reduces the risk of bleeds, making differences difficult to measure. We surveyed specialist haemophilia nurses to discern their opinions about the impact of haemophilia B compared to haemophilia A. Methods Between July and September 2020, European and Canadian nurses were invited to complete an online survey (25 questions) about perceptions of management and treatment of haemophilia B. Results Fifty-nine nurses (46 European, 13 Canadian) completed the survey. Bleeding was reported as different in haemophilia B by 37% of respondents, and treatment as different by over half. Opinions and experience around using extended half-life (EHL) products varied. Self-reported confidence in using EHL products was rated at a mean of 7.1 (range 3–10) with 47% believing these would remain the optimal treatment in 2025. Conclusion Some nurses believe haemophilia A and B are managed differently. Variations in experience and levels of confidence in the use of EHL products, combined with a belief that these products will remain an optimal treatment for haemophilia B for the next five years, indicates a need for education to promote confidence and competence.
{"title":"Haemophilia specialist nurses’ perceptions of haemophilia B","authors":"S. Chaplin, Maj Friberg Birkedal, E. Crilly, Simon Fletcher, Sara Garcia, G. Mulders, L. Myrin-Westesson, D. Pollard, Anna Sanigorska, N. Uitslager","doi":"10.2478/jhp-2021-0013","DOIUrl":"https://doi.org/10.2478/jhp-2021-0013","url":null,"abstract":"Abstract Introduction Some clinicians believe that haemophilia B is associated with less bleeding than haemophilia A, yet there appears to be little difference in health-related outcomes. Current clinical practice reduces the risk of bleeds, making differences difficult to measure. We surveyed specialist haemophilia nurses to discern their opinions about the impact of haemophilia B compared to haemophilia A. Methods Between July and September 2020, European and Canadian nurses were invited to complete an online survey (25 questions) about perceptions of management and treatment of haemophilia B. Results Fifty-nine nurses (46 European, 13 Canadian) completed the survey. Bleeding was reported as different in haemophilia B by 37% of respondents, and treatment as different by over half. Opinions and experience around using extended half-life (EHL) products varied. Self-reported confidence in using EHL products was rated at a mean of 7.1 (range 3–10) with 47% believing these would remain the optimal treatment in 2025. Conclusion Some nurses believe haemophilia A and B are managed differently. Variations in experience and levels of confidence in the use of EHL products, combined with a belief that these products will remain an optimal treatment for haemophilia B for the next five years, indicates a need for education to promote confidence and competence.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"88 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":"131964541","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 Women who have the gene variant for haemophilia are labelled solely as ‘carriers’ unless they have a factor VIII activity of ≤40%. This term, which describes an individual who can pass on a disorder but are themselves unaffected, reflects a legacy that extends from the 18th century to the present day. There is strong evidence that women labelled as carriers experience heavy periods, joint damage, pain and impaired quality of life. The label ‘carrier’ does not recognise this burden and is associated with guilt, stigma and difficulty accessing care. People living with a long-term disorder should now be described using person-first terminology and it is common to see the term ‘people with haemophilia’. The term ‘carrier’ should be limited to its application in genetics and not used as a catch-all label for women with haemophilia.
{"title":"“You’re only a carrier” – women and the language of haemophilia","authors":"S. Chaplin, K. Khair","doi":"10.2478/jhp-2021-0015","DOIUrl":"https://doi.org/10.2478/jhp-2021-0015","url":null,"abstract":"Abstract Women who have the gene variant for haemophilia are labelled solely as ‘carriers’ unless they have a factor VIII activity of ≤40%. This term, which describes an individual who can pass on a disorder but are themselves unaffected, reflects a legacy that extends from the 18th century to the present day. There is strong evidence that women labelled as carriers experience heavy periods, joint damage, pain and impaired quality of life. The label ‘carrier’ does not recognise this burden and is associated with guilt, stigma and difficulty accessing care. People living with a long-term disorder should now be described using person-first terminology and it is common to see the term ‘people with haemophilia’. The term ‘carrier’ should be limited to its application in genetics and not used as a catch-all label for women with haemophilia.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"76 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":"130249531","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}
C. Kwan, M. Bhatt, K. Strike, K. Decker, D. Matino, Anthony K. C. Chan
Abstract Background Current treatment for severe haemophilia includes prophylactic factor replacement to prevent bleeding. Coagulation factor products have significant inter-patient variability in pharmacokinetic (PK) parameters. Optimal management requires tailoring prophylaxis to individual PK parameters. Web-based Application for the Population Pharmacokinetic Service (WAPPS) is a tool that estimates individual PK values using a population approach. Despite its growing use to help guide dosing selection, few studies have investigated its clinical impact. Aim To investigate any change in prophylaxis regimen and hours per week where factor level is under 1%, pre- and post-PK testing using WAPPS, for paediatric patients with severe haemophilia. Methods A retrospective chart review was conducted for all paediatric patients with severe haemophilia receiving care between April 2013 and July 2018 at McMaster Children's Hospital who have used WAPPS. Data extracted included: patient demographics, PK data generated by WAPPS, prophylaxis regimen pre- and post-PK testing, and reason for regimen change. The number of hours per week where factor level was under 1% pre- and post-PK testing was calculated using WAPPS. Results Thirty-one patients were included; 42% (n=13) changed their prophylaxis regimen after PK testing. After using PK data to personalise prophylaxis recommendations, there was a decrease in the number of hours per week where factor level is under 1% (from an average of 13.1 hours/week to 11.8 hours/week), though not statistically significant (p=0.16). Conclusion PK data generated by WAPPS has direct impact by informing changes to prophylaxis recommendations. This individualised approach promotes patient-centred care and patient engagement without increasing the time spent with factor levels below 1%. It also confirms and validates clinical practice.
{"title":"Web-based Application for the Population Pharmacokinetic Service (WAPPS)'s impact on dosage selection: a single paediatric centre experience","authors":"C. Kwan, M. Bhatt, K. Strike, K. Decker, D. Matino, Anthony K. C. Chan","doi":"10.17225/jhp00179","DOIUrl":"https://doi.org/10.17225/jhp00179","url":null,"abstract":"Abstract Background Current treatment for severe haemophilia includes prophylactic factor replacement to prevent bleeding. Coagulation factor products have significant inter-patient variability in pharmacokinetic (PK) parameters. Optimal management requires tailoring prophylaxis to individual PK parameters. Web-based Application for the Population Pharmacokinetic Service (WAPPS) is a tool that estimates individual PK values using a population approach. Despite its growing use to help guide dosing selection, few studies have investigated its clinical impact. Aim To investigate any change in prophylaxis regimen and hours per week where factor level is under 1%, pre- and post-PK testing using WAPPS, for paediatric patients with severe haemophilia. Methods A retrospective chart review was conducted for all paediatric patients with severe haemophilia receiving care between April 2013 and July 2018 at McMaster Children's Hospital who have used WAPPS. Data extracted included: patient demographics, PK data generated by WAPPS, prophylaxis regimen pre- and post-PK testing, and reason for regimen change. The number of hours per week where factor level was under 1% pre- and post-PK testing was calculated using WAPPS. Results Thirty-one patients were included; 42% (n=13) changed their prophylaxis regimen after PK testing. After using PK data to personalise prophylaxis recommendations, there was a decrease in the number of hours per week where factor level is under 1% (from an average of 13.1 hours/week to 11.8 hours/week), though not statistically significant (p=0.16). Conclusion PK data generated by WAPPS has direct impact by informing changes to prophylaxis recommendations. This individualised approach promotes patient-centred care and patient engagement without increasing the time spent with factor levels below 1%. It also confirms and validates clinical practice.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"10 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":"122150799","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}
Cecily Bos, P. Tieu, John K Wu, K. Strike, Anthony K. C. Chan
Abstract Background Previous research has shown that bone mineral density (BMD), a measure of bone strength, may be lower among people with haemophilia. However, the majority of this research has been done in adults and in countries where the treatment for haemophilia differs from the standard of care in Canada, and there is a lack of paediatric data. Aims The primary objective of this study was to determine whether Canadian children and youth with severe haemophilia A and B have BMD similar to healthy controls matched for height, age and weight (HAW-score). Secondary objectives included the exploration of any association between BMD and the following variables: factor replacement regimen, Hemophilia Joint Health Score (HJHS), bleeding history, physical activity level, and dietary intake of calcium, vitamin D, vitamin K and protein. Methods A cross-sectional observational study was designed to determine the BMD of children with severe haemophilia A and B in Canada. Ethical approvals were obtained from participating institutions. Thirty-eight participants aged 3–18 with severe haemophilia A and B were recruited from two treatment centres in Canada. Subjects underwent dual-energy X-ray absorptiometry (DXA) scan, and data was collected from regular clinic visit to identify factor replacement regimen, HJHS, and number of joint bleeds over the lifespan. Physical activity level and dietary intake of calcium, vitamin D, vitamin K and protein were identified using self-report questionnaires. Results Participants showed a mean spine BMD Z-score and HAW-score higher than controls, with no participants showing a spine Z-score or HAW-score of <0. Hip BMD score was within normal range, and 2 participants had a Z-score and HAW-score of <−2. Total body BMD score was lower than controls, with 6 participants having a Z-score of <−2.0, and 3 participants having a HAW-score of <−2.0. Factor replacement regimen, HJHS, calcium intake, and physical activity level had no relationship to BMD Z-score or HAW-score. Low intake of vitamin D was associated with a low hip and spine BMD Z-score and HAW-score. Participants with a HJHS joint score greater than 0 had a higher total body HAW-score than those who had a joint score of 0. Conclusion Canadian children with severe haemophilia A and B demonstrate differences in spine and total body BMD from height-, age-, and weight-matched controls, where spine BMD is higher than controls and total body BMD is lower than controls. Studies with a larger sample size are needed to clarify the status of BMD in children with haemophilia treated with primary prophylaxis.
{"title":"Bone mineral density in Canadian children with severe haemophilia A or B: a cross-sectional study","authors":"Cecily Bos, P. Tieu, John K Wu, K. Strike, Anthony K. C. Chan","doi":"10.2478/jhp-2021-0012","DOIUrl":"https://doi.org/10.2478/jhp-2021-0012","url":null,"abstract":"Abstract Background Previous research has shown that bone mineral density (BMD), a measure of bone strength, may be lower among people with haemophilia. However, the majority of this research has been done in adults and in countries where the treatment for haemophilia differs from the standard of care in Canada, and there is a lack of paediatric data. Aims The primary objective of this study was to determine whether Canadian children and youth with severe haemophilia A and B have BMD similar to healthy controls matched for height, age and weight (HAW-score). Secondary objectives included the exploration of any association between BMD and the following variables: factor replacement regimen, Hemophilia Joint Health Score (HJHS), bleeding history, physical activity level, and dietary intake of calcium, vitamin D, vitamin K and protein. Methods A cross-sectional observational study was designed to determine the BMD of children with severe haemophilia A and B in Canada. Ethical approvals were obtained from participating institutions. Thirty-eight participants aged 3–18 with severe haemophilia A and B were recruited from two treatment centres in Canada. Subjects underwent dual-energy X-ray absorptiometry (DXA) scan, and data was collected from regular clinic visit to identify factor replacement regimen, HJHS, and number of joint bleeds over the lifespan. Physical activity level and dietary intake of calcium, vitamin D, vitamin K and protein were identified using self-report questionnaires. Results Participants showed a mean spine BMD Z-score and HAW-score higher than controls, with no participants showing a spine Z-score or HAW-score of <0. Hip BMD score was within normal range, and 2 participants had a Z-score and HAW-score of <−2. Total body BMD score was lower than controls, with 6 participants having a Z-score of <−2.0, and 3 participants having a HAW-score of <−2.0. Factor replacement regimen, HJHS, calcium intake, and physical activity level had no relationship to BMD Z-score or HAW-score. Low intake of vitamin D was associated with a low hip and spine BMD Z-score and HAW-score. Participants with a HJHS joint score greater than 0 had a higher total body HAW-score than those who had a joint score of 0. Conclusion Canadian children with severe haemophilia A and B demonstrate differences in spine and total body BMD from height-, age-, and weight-matched controls, where spine BMD is higher than controls and total body BMD is lower than controls. Studies with a larger sample size are needed to clarify the status of BMD in children with haemophilia treated with primary prophylaxis.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"11 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":"125619591","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 Gene therapy for haemophilia is in late-stage clinical development and has the potential to become a therapeutic option in clinical practice. Aims To enhance the understanding of the perspectives of people with haemophilia around gene therapy, and to highlight their concerns about and motivations for having gene therapy. Method Structured, qualitative interviews were conducted and recorded with six people who had received an investigational gene therapy product. The recordings were transcribed and thematically analysed. Results Most of those interviewed were under the age of 40, and the mean time out from their gene therapy infusion was 10 months. Adverse events were the main concerns pre-infusion, and impact on quality of life was the main motivating factor for choosing to go ahead. Pre-infusion, the treating centre and the health care professionals working there were the main source of information regarding gene therapy; only two participants looked elsewhere for information to support their decision. None of the respondents expressed concerns about the infusion day itself, and all found the infusion to be simple or uneventful. Post-infusion, four found the frequency of follow-up appointments difficult, with time and travel the main issues. Conclusion Although participants' perspectives on gene therapy were generally positive, there remains a need for education and support. Nurses will play an important role in the delivery of gene therapy for haemophilia, but all staff within the haemophilia treatment centre should be armed with the knowledge and confidence to answer questions about gene therapy.
{"title":"The patient gene therapy journey: Findings from qualitative interviews with trial participants at one UK haemophilia centre","authors":"Elsa Aradom, K. Gomez","doi":"10.17225/jhp00174","DOIUrl":"https://doi.org/10.17225/jhp00174","url":null,"abstract":"Abstract Introduction Gene therapy for haemophilia is in late-stage clinical development and has the potential to become a therapeutic option in clinical practice. Aims To enhance the understanding of the perspectives of people with haemophilia around gene therapy, and to highlight their concerns about and motivations for having gene therapy. Method Structured, qualitative interviews were conducted and recorded with six people who had received an investigational gene therapy product. The recordings were transcribed and thematically analysed. Results Most of those interviewed were under the age of 40, and the mean time out from their gene therapy infusion was 10 months. Adverse events were the main concerns pre-infusion, and impact on quality of life was the main motivating factor for choosing to go ahead. Pre-infusion, the treating centre and the health care professionals working there were the main source of information regarding gene therapy; only two participants looked elsewhere for information to support their decision. None of the respondents expressed concerns about the infusion day itself, and all found the infusion to be simple or uneventful. Post-infusion, four found the frequency of follow-up appointments difficult, with time and travel the main issues. Conclusion Although participants' perspectives on gene therapy were generally positive, there remains a need for education and support. Nurses will play an important role in the delivery of gene therapy for haemophilia, but all staff within the haemophilia treatment centre should be armed with the knowledge and confidence to answer questions about gene therapy.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"13 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":"128491978","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 Women with a bleeding disorder (WBD), including those diagnosed as a carrier, often have heavy periods associated with prolonged bleeding and pain. This survey sought to describe the impact of this substantial burden on daily living and the personal cost of managing heavy periods. Methods An online survey was promoted to women who identify as having a bleeding disorder via the social media of The Haemophilia Society in January and February 2020. The survey included 20 questions about personal data, symptoms and the practicalities of living with a bleeding disorder. Results A total of 181 responses were received, of which 151 were complete questionnaires. Of these, 58% of respondents were aged 18–45 and 136 identified as having a bleeding disorder, mostly haemophilia or von Willebrand disease. Thirteen (10%) had been diagnosed as a haemophilia carrier and a further four women were probable carriers. Prolonged or painful periods were reported by the majority of respondents; the median duration of bleeding was 7 days (range 2–42). Thirty-six per cent took time off work or study as a result and 42% reported a negative impact on social life. Eighteen women (13%) reported having to use a combination of sanitary protection products to manage their bleeding. Women diagnosed as a carrier reported morbidity comparable with that of women with a diagnosed bleeding disorder and reported greater use of combinations of sanitary protection. Conclusion WBD experience a high prevalence of heavy bleeding and prolonged, painful periods despite using appropriate symptomatic treatment. The impact of heavy periods on women diagnosed as a being a carrier is comparable with that experienced by women with a diagnosed bleeding disorder, but as they are not always clinically recognised they may lack access to care and support.
{"title":"The impact of heavy periods on women with a bleeding disorder","authors":"N. Sugg, D. Morgan","doi":"10.17225/jhp00173","DOIUrl":"https://doi.org/10.17225/jhp00173","url":null,"abstract":"Abstract Background Women with a bleeding disorder (WBD), including those diagnosed as a carrier, often have heavy periods associated with prolonged bleeding and pain. This survey sought to describe the impact of this substantial burden on daily living and the personal cost of managing heavy periods. Methods An online survey was promoted to women who identify as having a bleeding disorder via the social media of The Haemophilia Society in January and February 2020. The survey included 20 questions about personal data, symptoms and the practicalities of living with a bleeding disorder. Results A total of 181 responses were received, of which 151 were complete questionnaires. Of these, 58% of respondents were aged 18–45 and 136 identified as having a bleeding disorder, mostly haemophilia or von Willebrand disease. Thirteen (10%) had been diagnosed as a haemophilia carrier and a further four women were probable carriers. Prolonged or painful periods were reported by the majority of respondents; the median duration of bleeding was 7 days (range 2–42). Thirty-six per cent took time off work or study as a result and 42% reported a negative impact on social life. Eighteen women (13%) reported having to use a combination of sanitary protection products to manage their bleeding. Women diagnosed as a carrier reported morbidity comparable with that of women with a diagnosed bleeding disorder and reported greater use of combinations of sanitary protection. Conclusion WBD experience a high prevalence of heavy bleeding and prolonged, painful periods despite using appropriate symptomatic treatment. The impact of heavy periods on women diagnosed as a being a carrier is comparable with that experienced by women with a diagnosed bleeding disorder, but as they are not always clinically recognised they may lack access to care and support.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"57 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":"127620294","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}
Doaa Abdelfattah, A. Klaassen, Heather Perkins, Diane Bissonette, Dorine Belliveau, R. Klaassen
Abstract Background Regular follow-up visits and routine care is important for people with a mild bleeding disorder in terms of lowering their risk of complications from untreated bleeds and helping them maintain a healthy lifestyle. However, follow-up visits among this population can sometimes be missed for unclear reasons. Aim The present study aimed to question if lost-to-follow-up patients with a bleeding disorder experience unreported but important bleeding events that are not communicated to their haemophilia treatment centre (HTC) and if they could benefit from more frequent clinic visits. Methods A multicentre paper-based cross-sectional survey was sent to people diagnosed with an inherited blood disorder and lost to follow-up for two years or more. Those who met the eligibility criteria received the survey by mail and completed and returned it to their HTC between October 2015 and July 2016. Results Invitation packages were sent to 71 individuals; 14 questionnaires returned, with a survey response rate of 19.7%. Of the 14 returned surveys, only 11 participants were eligible who either responded completely or partially to the survey. Quality of life was reported as almost never or never a problem by all but one participant, who limited activities due to bleeding problems. Spontaneous nosebleeds were sometimes, often or always a problem for three participants; one female participant reported issues associated with heavy menstrual bleeding as often or almost always a problem. Conclusion We concluded that although the mean annual bleeding self-reported events were relatively low, they cannot be underestimated when keeping in mind the limitations and challenges of accessing data among this population. Our study highlighted the importance of educating this group of patients on their bleeding disorder and engaging them in their own care and health status, which may result in improving their health-related quality of life and overall health outcomes.
{"title":"Red Flag Study: An observational cross-sectional survey looking at bleeding in patients with a bleeding disorder who are lost to follow-up","authors":"Doaa Abdelfattah, A. Klaassen, Heather Perkins, Diane Bissonette, Dorine Belliveau, R. Klaassen","doi":"10.17225/jhp00175","DOIUrl":"https://doi.org/10.17225/jhp00175","url":null,"abstract":"Abstract Background Regular follow-up visits and routine care is important for people with a mild bleeding disorder in terms of lowering their risk of complications from untreated bleeds and helping them maintain a healthy lifestyle. However, follow-up visits among this population can sometimes be missed for unclear reasons. Aim The present study aimed to question if lost-to-follow-up patients with a bleeding disorder experience unreported but important bleeding events that are not communicated to their haemophilia treatment centre (HTC) and if they could benefit from more frequent clinic visits. Methods A multicentre paper-based cross-sectional survey was sent to people diagnosed with an inherited blood disorder and lost to follow-up for two years or more. Those who met the eligibility criteria received the survey by mail and completed and returned it to their HTC between October 2015 and July 2016. Results Invitation packages were sent to 71 individuals; 14 questionnaires returned, with a survey response rate of 19.7%. Of the 14 returned surveys, only 11 participants were eligible who either responded completely or partially to the survey. Quality of life was reported as almost never or never a problem by all but one participant, who limited activities due to bleeding problems. Spontaneous nosebleeds were sometimes, often or always a problem for three participants; one female participant reported issues associated with heavy menstrual bleeding as often or almost always a problem. Conclusion We concluded that although the mean annual bleeding self-reported events were relatively low, they cannot be underestimated when keeping in mind the limitations and challenges of accessing data among this population. Our study highlighted the importance of educating this group of patients on their bleeding disorder and engaging them in their own care and health status, which may result in improving their health-related quality of life and overall health outcomes.","PeriodicalId":372940,"journal":{"name":"The Journal of Haemophilia Practice","volume":"104 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":"121941632","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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