rss_2.0The Journal of Haemophilia Practice FeedSciendo RSS Feed for The Journal of Haemophilia Practice Journal of Haemophilia Practice 's Cover“I didn’t know women could have haemophilia”: A qualitative case study<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title> <p>There is a historic but persistent belief in haemophilia care that women do not suffer with the condition, they merely carry and transmit it. However, around 250 women worldwide are known to have factor levels within the severe to moderate haemophilia range (&lt;1 IU/dL to 5 IU/dL), and the true figure may be greater than this. The experience of these women may be the same as or similar to those of men with similar factor levels, but there may be significant differences. What these differences are and what they mean to the women affected are not well understood as their voices are not heard. This case study highlights the issues and experiences of one woman living severe haemophilia.</p> </sec> <sec><title style='display:none'>Methods</title> <p>A single semi-structured qualitative interview was undertaken to explore the experiences of a young woman who has factor VIII levels of &lt;1 IU/dL. The interview was recorded, transcribed and thematically analysed.</p> </sec> <sec><title style='display:none'>Results</title> <p>Four interlinked themes were identified: recognition, self-advocacy, identity and access to treatment.</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>This case study indicates that, despite recent attempts to improve the diagnostic nomenclature, women and girls with haemophilia continue to find it difficult to access similar levels of care to men and boys. As such, they may fail to achieve parity in terms of safety, integrity and wellbeing, and have a reduced quality of life. If women and girls affected by haemophilia are to receive levels of treatment comparable to men, diagnostic criteria need to change further. Focusing on genotype, levels of factor expressed and phenotypical presentation rather than biological sex will acknowledge and validate their experiences, and improve treatment for all people with haemophilia in the future.</p> </sec> </abstract>ARTICLE2022-07-04T00:00:00.000+00:00Processes and experiences of satellite haemophilia clinic set-ups in Uganda – a short report<abstract> <title style='display:none'>Abstract</title> <p>Haemophilia knowledge and care are largely missing in much of sub-Saharan Africa and there is a need for concerted efforts to ensure access to care services by affected persons. Haemophilia Foundation Uganda, supported by the global haemophilia community and working with the Uganda Ministry of Health, has set up eight satellite haemophilia treatment centres (HTCs) as part of a wider initiative to raise awareness and improve haemophilia care. Setting up the HTCs has involved a six-step process involving stakeholders in government, healthcare and the community, and ranging from securing initial support to an ongoing follow-up programme of mentorship and training. Over 1,700 healthcare professionals have been trained and 186 patients have been registered at these peripheral facilities over the past five years. This is helping to improve access to care, but there are still shortcomings around diagnostic capacity, available healthcare personnel, and facilities to procure recombinant factor products. We will continue and further our advocacy for budgetary inclusion of haemophilia at political and facility levels. We also propose a continued strengthening of the haemophilia care teams through mentorship, networking, and mobilisation for diagnostic support at large public hospitals.</p> </abstract>ARTICLE2022-05-20T00:00:00.000+00:00Discrete choice experiments: An overview of experience to date in haemophilia<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title><p>The patient voice is an important consideration in the availability and choice of pharmaceuticals – however, how to capture this complex area and apply it formally within regulation, health technology assessment and reimbursement remains subject to ongoing debate. Patient preference studies such as discrete choice experiments (DCEs) are being utilised more frequently in healthcare and it is anticipated that patient preference data will be incorporated more frequently into regulatory submissions moving forward.</p></sec> <sec><title style='display:none'>Aim</title><p>The aim of this review is to provide an overview of DCEs conducted within haemophilia to date and to consider the key issues in response to a rapidly evolving therapeutic pathway.</p></sec> <sec><title style='display:none'>Methods</title><p>A systematic literature search was undertaken via Ovid MEDLINE and EMBASE CLASSIC + EMBASE. Abstracts were uploaded and analysed via Rayyan systematic review software. Results: Of 478 records identified from the database searches, 12 full text journal articles met the inclusion criteria with a date range from 2005–2021. There have been two published studies exploring haemophilia patient preferences in relation to gene therapy: one DCE and one utilising a threshold technique. Surveyed audiences included physicians, patients, pharmacists, healthcare professionals and caregivers. 50% of the included studies (n=6) were exclusively conducted in the US, whilst 3 recruited participants across multiple countries. The sample size varied considerably between studies with the total sample size ranging from 30 participants to 505 participants. For the studies involving patients and their caregivers, the mean patient age range was 8.2–41.4 years. There was diversity in (a) the scale of the qualitative work undertaken to support the DCEs, (b) the undertaking of pilots, and (c) how extensively these elements were reported in the included studies. There is a notable trend towards using an online web-based format, with 3 out of 4 DCEs since 2019 utilising this approach. The number of attributes observed per DCE ranged from 5–12 with a median of 6 attributes from the included studies. The number of levels per attribute was relatively consistent (range 2–5) with 2–3 (n=4) and 2–4 levels (n=4) being utilised most frequently.</p></sec> <sec><title style='display:none'>Conclusion</title><p>Patient preferences and the methods for capturing these are likely to be subject to ongoing debate as the haemophilia care pathway evolves to offer more therapeutic options with a range of risks and benefits. Whilst techniques such as DCE are effective at quantifying patient preferences, they tell us little about the reasons driving these decisions and the likelihood that they will change in response to temporal or external factors. DCEs could be particularly useful for estimating the uptake of new products and assessing potential budget impact. Accelerated and reformed regulatory processes are likely to increase demand for patient preference studies. There is therefore an increased requirement to ensure that patient advocacy groups (PAGs) are resourced and have the expertise to support these studies alongside other research commitments, and that manufacturers consider collaborative approaches when formally capturing patient preferences.</p> <p><fig id="j_jhp-2022-0006_fig_007" position="float" fig-type="figure"><caption><p>As more therapeutic options become available in haemophilia care, discrete choice experiment may be a useful means of gauging patient preference</p><p>© Shutterstock</p></caption><graphic xmlns:xlink="" xlink:href="graphic/j_jhp-2022-0006_fig_007.jpg"/></fig></p></sec> </abstract>ARTICLE2022-05-20T00:00:00.000+00:00Point of care ultrasonography in patients with haemophilia and acute haemarthrosis: a physiotherapist and sonographer inter-professional agreement pilot study<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title><p>Haemophilia treatment centres (HTCs) around the world are increasingly adopting point-of-care ultrasonography (POCUS) for the assessment of acute haemarthrosis and to monitor joint health. POCUS is in large part administered by physiotherapists in most comprehensive care teams. Appropriate implementation of haemophilia-specific POCUS requires an educational foundation and training to ensure competency and optimal outcomes. Inter-professional agreement and evaluation of image quality are important measures of competency and acceptable use of POCUS.</p></sec> <sec><title style='display:none'>Aims</title><p>To determine the level of agreement between physiotherapist and sonographer-performed POCUS scans and to compare the quality of the ultrasound images obtained by physiotherapists to those obtained by the sonographer.</p></sec> <sec><title style='display:none'>Methods</title><p>This single blind, prospective, pilot study recruited patients with haemophilia A and B who presented to clinic with a suspected acute haemarthrosis of the elbow, knee, or ankle and consented to participate. POCUS scans were performed by one trained physiotherapist and one sonographer in the haemophilia ambulatory clinic at patient presentation, one-week follow-up, and two-week follow-up. The physiotherapist participated in formal training consisting of 12 hours of online didactic modules and a two-day, 12-hour practical module with instructor-led hands-on training. For the primary objective, the outcome of interest was the binary decision on the presence or absence of blood within the joint. For the secondary objective, image quality was evaluated by the radiologist post hoc and rated as optimal, acceptable, or sub-optimal.</p></sec> <sec><title style='display:none'>Results</title><p>Thirteen participants with haemophilia consented to the study. The results indicated an excellent level of agreement (k=0.80) with an observed agreement of 91.7%, a specific positive agreement of 94.1%, and a specific negative agreement of 85.7% for the detection of blood within the joint space. The quality of the ultrasound images obtained by the physiotherapist were rated by the radiologist as optimal (84.6%) and acceptable (15.4%). None of the images were rated as sub-optimal.</p></sec> <sec><title style='display:none'>Conclusion</title><p>Optimal image quality and a high level of agreement between the physiotherapist and sonographer-performed POCUS for the assessment of acute hemarthrosis in people with haemophilia A and B was observed. These results suggest that, with a short formal training programme, physiotherapists can be proficient in the performance, acquisition, and interpretation of POCUS scans in patients with haemophilia.</p></sec> </abstract>ARTICLE2022-05-20T00:00:00.000+00:00Treatment of a patient with severe haemophilia A presenting with left extra pleural haematoma and diagnosed with inhibitors – case report<abstract> <title style='display:none'>Abstract</title> <p>Haemophilia is an inherited X-linked bleeding disorder characterised by a deficiency or absence of clotting factor VIII (haemophilia A) or IX (haemophilia B), which can cause musculoskeletal bleeding. The standard treatment for haemophilia is with factor concentrates to replace the missing or deficient clotting factor. However, there is a risk that the immune system develops antibodies against the exogenous factor, known as inhibitors. Managing patients with haemophilia and inhibitors who develop bleeding in unusual sites can be challenging for the treating physician. Here, we present a rare case of patient with severe haemophilia A who was diagnosed with inhibitors after developing bleeding in the left posterior chest wall (extra pleural haematoma). The patient was successfully managed with activated prothrombin complex concentrate (aPCC) (FEIBA: FVIII inhibitor bypassing activity; Baxter AG), and the pain and swelling gradually resolved over three weeks. This case emphasises the importance of clinical suspicion of inhibitor formation in a patient already diagnosed with haemophilia A presenting with unusual bleeding that does not respond to standard treatment.</p> </abstract>ARTICLE2022-05-20T00:00:00.000+00:00Development of decision-making considerations to support equitable patient selection in paediatric haemophilia trials<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title> <p>Clinical trials for investigational haemophilia treatments such as gene therapy offer a potentially life-changing opportunity to those who are selected for enrolment. However, the number of enrolment slots available for these trials is often greatly exceeded by the number of eligible patients. Many of the strategies that are commonly used to select candidates for participation can be highly unsystematic, inequitable, and subjective. A more rigorous set of criteria is therefore needed to evaluate each candidate's suitability for trial participation in order to eliminate bias in selection and fulfill the ethical principle of justice.</p> </sec> <sec><title style='display:none'>Aims</title> <p>To review current knowledge and issues in patient selection for paediatric haemophilia clinical trials with competitive availability, and to develop a more objective standard for decision-making that takes into account the needs of all involved parties.</p> </sec> <sec><title style='display:none'>Methods</title> <p>A literature search on the ethics of trial participant selection and the practice of fairly distributing limited medical resources was conducted to identify previous literature and best practices in the area. A list of essential decision-making considerations was then designed to guide the selection of paediatric participants for haemophilia therapy trials through iterative group discussions between a diverse team of health professionals at McMaster Children's Hospital, Hamilton, ON, Canada.</p> </sec> <sec><title style='display:none'>Results</title> <p>Current practices in resolving this ethical issue are highly heterogenous, although there are some common themes and recommendations. The three main criteria supported by the team and the literature search for inclusion in the considerations were: medical need, need for support, and potential safety considerations for the patient. Three measures for evaluating each criterion were developed and added for consideration during the decision-making process. The role of patient selection in meeting the scientific aims of the trial was also considered.</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>Attempting to create an equitable, systematic decision-making procedure for clinical trial participant selection involves a wide variety of competing values and ethical considerations, and discrepancies between recommendations are commonplace. The criteria presented here are intended to be used as a guideline to assist the equitable selection of paediatric patients for participation in haemophilia clinical trials with highly limited enrolment, although it may have some applicability to other areas of clinical research or therapeutic areas concerned with the allocation of scarce medical resources. Next steps should involve speaking with patients, community members and other stakeholders in order to include their perspectives.</p> <fig id="j_jhp-2022-0007_fig_001" position="float" fig-type="figure"> <caption><p>Assessment of medical need, potential support needs, and safety considerations form the basis of criteria for discussions around how to make enrolment in paediatric haemophilia clinical trials more equitable</p><p>© Shutterstock</p></caption> <graphic xmlns:xlink="" xlink:href="graphic/j_jhp-2022-0007_fig_001.jpg"/> </fig> </sec> </abstract>ARTICLE2022-04-08T00:00:00.000+00:00Key challenges for hub and spoke models of care – A report from the 1st workshop of the EHC Think Tank on Hub and Spoke Treatment Models<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>The hub and spoke model can deliver high quality care to a scattered population through centres of expertise supported by a network of several smaller geographically dispersed centres. This approach is now being proposed to provide care for people with rare diseases, and in particular for rare bleeding disorders. To ensure that specialised treatments such as gene therapy can be delivered effectively using the hub and spoke model of care, it is important to understand the challenges that the model presents for all stakeholders.</p></sec> <sec><title style='display:none'>Identifying key challenges</title><p>As part of the EHC Think Tank Workstream on Hub and Spoke Treatment Models, 14 stakeholders representing health care providers, patient groups, research and industry met in November 2021 to identify challenges in the design, implementation and sustainable operation of hub and spoke models, and to propose ways in which resources could be allocated and collaboration fostered, from each of their stakeholder perspectives. Five key challenges were identified: 1. How future care might be re-envisioned; 2. Which agencies and stakeholders should determine which centres become hubs or spokes, and how this process might be carried out; 3. Identifying the criteria that will define a hub and spoke, and the roles of various stakeholders in that process; 4. How resources might be allocated; 5. How hubs and spokes will collaborate to ensure that patients' needs are prioritised. This model may also be recommended for treatment with gene therapy in certain rare diseases.</p></sec> <sec><title style='display:none'>Summary</title><p>Hub and spoke models should be implemented by establishing criteria for hub and spoke status, prioritising patients in service reorganisation and in the care pathway, and considering the impact of new service models on current arrangements. The next step is to vet the challenges identified by this workstream with a broader group of external stakeholders and bring their perspectives back for consideration.</p></sec> </abstract>ARTICLE2022-03-29T00:00:00.000+00:00Osseous bilateral pseudotumour of the thumb in severe haemophilia A – A case report<abstract> <title style='display:none'>Abstract</title> <p>Pseudotumour is a rare complication of haemophilia, categorised as osseous or non-osseous (soft tissue) lesions based on anatomic location. The bones most frequently involved are the larger ones; pseudotumours of small bones are rare. Here we present a rare case of pseudotumours of both thumbs in a 10-year-old male with severe haemophilia A, successfully treated with factor replacement therapy. This case highlights the possibility of treating such cases conservatively, but also the need for education to enable early intervention to prevent potential complications that could be life-threatening.</p> </abstract>ARTICLE2022-03-29T00:00:00.000+00:00Patient agency: key questions and challenges – A report from the 1st workshop of the EHC Think Tank Workstream on Patient Agency<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>Patient agency refers to the abilities and capabilities of patients to act, contribute, influence and make decisions about their healthcare. It depends on both the willingness of patients to participate and the constraints imposed by healthcare providers, services and systems. To determine the factors affecting patient agency, especially for patients with chronic, rare diseases such as haemophilia requiring lifelong care, it is important to consider the patterns, structures, and mental models that define the ecosystem that patients are a part of, irrespective of their level of engagement.</p></sec> <sec><title style='display:none'>Identifying key challenges</title><p>At the first workshop of the EHC Think Tank Workstream on Patient Agency in December 2021, participants identified five key themes for in-depth discussion relevant to patient agency: the concept of shared decision-making (SDM), patient empowerment, the spectrum of engagement, cultural change and health literacy. The Iceberg Model was used to unpack challenges by identifying composite factors on four levels: events, patterns, structures and mental models.</p></sec> <sec><title style='display:none'>Summary</title><p>Across the five themes, four common perceived challenges stand out: uneven relationships between patients and healthcare professionals, services and systems; paternalism and hierarchical cultures; failure to recognise problems; conservatism and resistance to change. Despite some progress towards patient empowerment, a ‘glass ceiling’ prevents patients from driving transformation and taking leadership roles in strategy, policymaking and governance. Patient engagement is fluid and those who could benefit most are least likely to engage. Health literacy is perceived as the problem of the patient, not the system, and patients rather than healthcare providers are typically expected to adapt. Preliminary suggestions for addressing these challenges include behavioural communication training for patients and healthcare professionals, a learning system for empowered patient and family care, and a level playing field for stakeholders to interact equally, leading to mutual acceptance and respect.</p></sec> </abstract>ARTICLE2022-03-29T00:00:00.000+00:00New challenges for an expanding generation of older persons with haemophilia<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title> <p>Increasing survival among people with haemophilia means that more individuals are at risk of developing age-related morbidity. Little is known about morbidity and health-related quality of life (HRQoL) in different age groups within a single large population of people with haemophilia.</p> </sec> <sec><title style='display:none'>Aim</title> <p>This study aimed to explore the association between increasing age and comorbidity among people with haemophilia and to compare their HRQoL with that of a sample of the general population in England.</p> </sec> <sec><title style='display:none'>Methods</title> <p>The prevalence of comorbidity recorded in medical records and HRQoL assessed by EQ-5D were compared by age group in participants in the Cost of Haemophilia in Europe: A Socioeconomic Survey study (CHESS) in Europe. HRQoL was compared with that of a sample of the general population taken from the 2012 Health Survey for England (HSE).</p> </sec> <sec><title style='display:none'>Results</title> <p>Younger adults in CHESS were more likely to have received prophylaxis from an early age. The mean number of affected joints in younger adults was 1.0; participants aged 41–50 (1.25) and 51–60 years (1.41) had the highest mean number of affected joints. The prevalence of comorbidity was 36% in patients aged 18–30, 61% in 31–60-year-olds and 68% in those aged 61+. HRQoL impairment in young adults with haemophilia was comparable with that in the HSE population aged over 60.</p> </sec> <sec><title style='display:none'>Conclusions</title> <p>Older people with haemophilia have impaired quality of life compared with younger adults and an increasing prevalence of several age-related disorders affecting mental health and cardiovascular and bone health. Young adults with haemophilia report impaired HRQoL comparable with that in a general population aged 61+.</p> </sec> </abstract>ARTICLE2022-03-09T00:00:00.000+00:00Key challenges for patient registries – A report from the 1 workshop of the EHC Think Tank Workstream on Registries<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>Patient registries are an invaluable resource for furthering the understanding of rare diseases such as bleeding disorders, providing large, pooled datasets not achievable by other means of data collection. As well as supporting clinical care and research, registries must also be able to answer questions that are important to the wider bleeding disorders community. However, there are challenges associated with the need for secure access, exchange of health data, quality and interoperability, and data delivery.</p></sec> <sec><title style='display:none'>Identifying key challenges</title><p>As part of the EHC Think Tank Patient Registries Workstream, 17 stakeholders representing health care providers, patient groups, research and industry met in October 2021 to identify challenges to managing and utilising patient registries, from each of their stakeholder perspectives. This is a first step in a longer term process aiming to identify or co-create solutions that could improve access and interpretation of patient data. The challenges identified relate to five key categories which are interlinked in various ways: 1. The multiplicity of registries and datasets; 2. Data quality; 3. Data sharing; 4. Expanding the scope of registries; 5. The role of the patient in registries.</p></sec> <sec><title style='display:none'>Summary</title><p>The heterogeneity in the way that registries are designed, funded and owned, the type of data collected, and the way data is collected are issues that must be addressed. Good, quality data is needed at all levels to ensure the provision and funding of effective care. Data quality will increase overall if it is possible to merge data from different registries. The value of patient participation in registries must also be acknowledged and built on to help ensure their quality, that they remain fit for purpose, and that data input is sustained over time.</p></sec> </abstract>ARTICLE2022-03-09T00:00:00.000+00:00“It's a way of life”: Results from the Perceptions of Pain in Haemophilia study<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>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.</p></sec> <sec><title style='display:none'>Aims</title><p>The Perceptions of Pain in Haemophilia study aimed to identify the impact of pain on men with haemophilia in the UK.</p></sec> <sec><title style='display:none'>Methods</title><p>The study used mixed qualitative research methods (paper-based questionnaires and focus group interviews). Eligible PWH aged &gt;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.</p></sec> <sec><title style='display:none'>Results</title><p>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.</p></sec> <sec><title style='display:none'>Conclusion</title><p>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.</p></sec> </abstract>ARTICLE2022-03-02T00:00:00.000+00:00Haemophilia A management with emicizumab: A survey of haematologists in the United States<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title><p>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.</p></sec> <sec><title style='display:none'>Aim</title><p>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.</p></sec> <sec><title style='display:none'>Methods</title><p>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.</p></sec> <sec><title style='display:none'>Results</title><p>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.</p></sec> <sec><title style='display:none'>Conclusions</title><p>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.</p></sec> </abstract>ARTICLE2022-03-02T00:00:00.000+00:00Bone health assessment in haemophilic arthropathy: A single centre study from Kolkata, West Bengal, India<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title><p>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.</p></sec> <sec><title style='display:none'>Aim</title><p>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.</p></sec> <sec><title style='display:none'>Methods</title><p>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.</p></sec> <sec><title style='display:none'>Results</title><p>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&lt;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&lt;0.05).</p></sec> <sec><title style='display:none'>Conclusion</title><p>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.</p></sec> </abstract>ARTICLE2022-03-02T00:00:00.000+00:00The use of rIX-FP in patients with haemophilia B: a nurse's perspective<abstract> <title style='display:none'>Abstract</title> <p>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.</p> </abstract>ARTICLE2021-08-18T00:00:00.000+00:00Dental extraction in congenital factor Vll deficiency with inhibitor – a case report<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title> <p>Hereditary factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance, and FVII deficiency with an inhibitor is extremely rare. There is sparse information in the literature on the management of tooth extraction in patients with FVII deficiency and an inhibitor.</p> </sec> <sec><title style='display:none'>Case description</title> <p>We report the case of a five-year-old child with FVII deficiency and an inhibitor who underwent dental extraction. The child had had multiple bleeding episodes including intracranial haemorrhage and had a history of severe allergic reaction to the infusion of recombinant FVII. The tooth was extracted using lignocaine gel and the antifibrinolytic agent oral tranexamic acid.</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>The extraction of a deciduous tooth in a patient with FVII deficiency and an inhibitor was undertaken without bleeding complications. There are currently no guidelines regarding management of this type of case. Further studies and evidence are required so that management can be standardised.</p> </sec> </abstract>ARTICLE2021-05-30T00:00:00.000+00:00The impact of heavy periods on women with a bleeding disorder<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title><p>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.</p></sec> <sec><title style='display:none'>Methods</title><p>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.</p></sec> <sec><title style='display:none'>Results</title><p>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.</p></sec> <sec><title style='display:none'>Conclusion</title><p>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.</p></sec> </abstract>ARTICLE2021-05-02T00:00:00.000+00:00Red Flag Study: An observational cross-sectional survey looking at bleeding in patients with a bleeding disorder who are lost to follow-up<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title> <p>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.</p> </sec> <sec><title style='display:none'>Aim</title> <p>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.</p> </sec> <sec><title style='display:none'>Methods</title> <p>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.</p> </sec> <sec><title style='display:none'>Results</title> <p>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.</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>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.</p> </sec> </abstract>ARTICLE2021-05-30T00:00:00.000+00:00Case report of nasal pseudotumor – a rare presentation in severe haemophilia A with high titre inhibitors<abstract> <title style='display:none'>Abstract</title> <p>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.</p> </abstract>ARTICLE2021-03-03T00:00:00.000+00:00Seeing the bigger picture: Qualitative research in the Zoom age<abstract> <title style='display:none'>Abstract</title> <p>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.</p> </abstract>ARTICLE2021-12-30T00:00:00.000+00:00en-us-1