Volume 5 (2018): Issue 1 (December 2018)

A person with haemophilia is at risk of intracranial haemorrhage caused by spontaneous or traumatic events, potentially resulting in long-term disability. Early initiation of timely treatment is essential to prevent this. In developing countries, morbidity and mortality is common in intracerebral haemorrhage (ICH) cases with haemophilia as a result of patients and family members having inadequate knowledge, lack of awareness regarding referral, lack of availability of treatment products, and delays in the treatment decision. These barriers can potentially be managed by the haemophilia nurse taking responsibility for the coordination of care. This case report addresses the nurse-coordinated care of a haemophilic patient with ICH in a developing country, and may provide insight into the benefits of a haemophilia nurse undertaking a coordinating role.

VELSEAL-Tis an innovative haemostatic medical device for the control of bleeding. Incorporating a clotting agent (thrombin) and anti-fibrinolytic agent (tranexamic acid), it enables rapid coagulation when blood flows into the dressing, leading to sealing and stabilisation of wound surfaces. A 36-year-old known to have mild haemophilia A presented with profuse bleeding from the forehead after injury following a fall on concrete surface. He attended hospital after 18 hours of injury as bleeding continued as soon as pressure was released from the injury site. A VELSEAL-T patch was applied to the injury site with the patient’s full consent. The bleeding stopped after 60 seconds, but the patient was instructed to hold the patch in place for a further 60 seconds. After two minutes of tight pressure application, there was no more oozing of blood from the injury site. This case shows that VELSEAL-T can be used as an aid in stopping external bleeding in haemophilia patients. Further trials should be undertaken to evaluate the safety and efficacy of this product.

With improved replacement therapy, people with haemophilia (PWH) live longer, with the consequent emergence of age-related chronic diseases not previously seen in haemophilia. The prevalence of cardiovascular disease and associated complications in older PWH appears to be on the rise. Management of myocardial infarction in a person living with severe haemophilia presents a particular challenge, as treatment options often include antiplatelet therapy, anti-coagulation and invasive procedures. Current guidelines for managing acute myocardial infarction are not specifically designed for people with bleeding diatheses such as haemophilia. We present a patient with severe haemophilia A on extended half-life factor VIII prophylaxis who developed an acute ST-elevation myocardial infarction (STEMI), discuss his clinical management and highlight lessons learned.

Management of haemophilia involves on-demand or prophylactic intravenous administration of recombinant or plasma-derived replacement clotting factors or bypassing agents. These products are provided as lyophilised powder and diluent, which need to be mixed to produce a solution for infusion. While this process has previously involved multiple time-consuming steps, several reconstitution systems are now available to make mixing easier and more convenient. This study aimed to investigate experience of use and perceptions of the Novo Nordisk MixPro^® mixing device among patients and carers using activated recombinant factor VII (rFVIIa) or recombinant factor VIII (rFVIII) with MixPro, and nurse specialists who were either familiar or unfamiliar with MixPro. Nurses were asked to simulate the preparation of an inactive solution using MixPro. Semi-structured interviews were used to gain insight into participants’ opinions of mixing systems in general and their perceptions of MixPro. Likert scales were used to rate the performance of MixPro against predefined characteristics of mixing systems, and the importance of the predefined characteristics to the design of a mixing system. Patients/carers and unfamiliar nurses identified low contamination risk when mixing as the most important characteristic of a mixing system; the most important criterion for familiar nurses was confidence that patients/carers could prepare the system correctly. MixPro was perceived to perform very well overall, particularly in parameters identified as most important. It was described as being user-friendly, simple and quick; its compactness and portability were highlighted as advantages for storage and travel. The main disadvantages reported related to its small components. The majority of nurses said that they were highly likely to recommend MixPro to their patients.

Long-standing inhibitors present many day-today difficulties for the affected individual; the unpredictability of bleeds, bleed management, pain and treatment efficacy all affect quality of life. This study explored these issues through focus groups of affected individuals aged 16-25 in the UK. The data from the focus groups was analysed for recurring themes, which were coded under three umbrella headings: ‘daily impact’, ‘education and future’ and ‘resilience and support’. Participants felt isolated through geography and being extra ‘rare’ within the bleeding disorders community; used pain as a gauge of bleed resolution, often without use of analgesia; described transition to adult care as particularly worrying; and explained the potential impact of living with an inhibitor on future career options. Peer-to-peer networking could provide emotional support for these young adults, who could also be role models for the future. Despite the burden of living with an inhibitor and its treatment, participants described a good quality of life from their own perspectives. With new therapeutic options for these individuals on the horizon, they look forward to a future with fewer bleeds and less pain.

Haemophilia treatment is characterised by intravenous infusions of clotting factor concentrates, with nurses frequently taking the lead role in administration, patient training and patient care. In recent years, a number of novel factor and non-factor-based therapies delivered by subcutaneous injection have been developed. These therapies are now undergoing clinical trials and will shortly be available in clinical practice. The coming era of at least some haemophilia treatments being delivered by subcutaneous injection clearly represents a significant change not only for patients (for whom they may be more convenient) but also for haemophilia nurse practice, particularly with respect to bleed and surgical management plans, and hence for nurse training and education. This review describes evidence-based guidance on subcutaneous injection technique and summarises the implications for nurses.

Sickle cell disease and haemophilia are rare inherited disorders that require intensive management. Few cases of people with both disorders have been reported. This case study describes the impact of living with these disorders and coping with their management on a boy and his mother.

Acquired haemophilia A (AHA) is a rare, autoimmune disease, presenting as sudden haemorrhages without any personal or family history. Anti-factor VIII (FVIII) is the most commonly recognised autoantibody resulting in decreased factor activity. The aetiology and pathophysiology of these antibodies remains unclear. Approximately 50% of reported cases are idiopathic; the rest are associated with other conditions, mainly underlying malignancies, autoimmune diseases (eg rheumatoid arthritis (RA), systemic lupus erythematosus), drug administration and postpartum period. A 74-year-old woman presented to our institution with haematochezia and haematuria. She had a medical history of cervix carcinoma; total abdominal hysterectomy and bilateral salpingo-oophorectomy with postoperative chemoradiotherapy was performed in 2011. She had also been followed up for 20 years for deforming and severe RA, which was in low-disease activity with methotrexate and corticosteroid. Laboratory investigations for abnormal bleeding revealed prolongation of activated partial thromboplastin time (APTT). APTT prolongation was not corrected by 50:50 plasma mixing studies, and a confirmatory factor assay demonstrated FVIII deficiency (1.4 IU/dL; normal range 50-150 IU/dL). Positive FVIII antibodies on Bethesda testing confirmed a diagnosis of AHA. A rectosigmoid mass and fistula between rectum and bladder were discovered by computed tomography (CT). Bleeding was controlled with recombinant activated factor VII (rFVIIa) after two weeks. Eradication of the inhibitor was achieved with high-dose pulse methylprednisolone for two days and then 2mg/kg daily over four weeks.

This article describes a case of wrongly managed haemophilic arthropathy in a 15-year-old boy in Uganda. Delayed diagnosis of haemophilia and misdiagnosis of haemophilic arthropathy resulted in unnecessary corrective surgery and potentially severe complications. After haemophilia was diagnosed, he was managed by haematologists using factor VIII and regular physiotherapy. The physiotherapy treatment approach focused in particular on functional activities, which was beneficial in achieving quicker results and made the patient’s rehabilitation more meaningful. This case indicates that there is a need for greater awareness of the presentation of haemophilia in developing countries.

People with Inherited Bleeding Disorders (IBD) are often prescribed a course of Tranexamic Acid (TXA) mouthwash for five to seven days following dental procedures to reduce the risk of bleeding. Informal discussions with patients suggested that many do not complete the prescribed course of treatment. A literature review indicated that TXA was prescribed inappropriately for procedures with a low bleeding risk, and that there are inconsistencies in the recommended dose, mode of administration and duration of TXA for this patient group. A new protocol was implemented in the haemophilia centre at St George’s University Hospital NHS Foundation Trust, London, to rationalise the prescribing of TXA in dental procedures. A study was conducted to explore patients’ experience of this new guideline in the form of a service evaluation. Structured telephone interviews were completed following 39 dental procedures to collect data on concerns about bleeding; whether TXA was taken as prescribed and reasons for non-adherence; and any unplanned post-operative treatment. The financial impact of the new guideline was also explored. Patients were supportive of the new regimen, although almost half (46%) did not complete the prescribed course of TXA. The majority (37/39) were prescribed tablets rather than mouthwash. No patients required additional unplanned haemostasis support to control haemorrhage. Cost savings were made by replacing a five- to seven-day course of TXA mouthwash with a three-day course of TXA tablets. Although the data collected from patient interviews supports the new guideline, patients appear to be making decisions about taking TXA based on their own experience rather than following the prescribed regimen. Prescribers should support patients to make informed decisions about their medicines and incorporate patient experience into individualised regimens. Given the lack of bleeding complications experienced in this cohort of patients, it is possible that TXA is being overprescribed. Further work exploring how patients with IBDs make decisions about taking medicines is needed.

In the 1980s and 1990s, thousands of people with bleeding disorders (PWBD) across the world were infected with HIV and hepatitis C virus (HCV) through contaminated treatment products. The extent of the infection, as well as the needs of those still living with HCV, were never properly assessed. The purpose of our survey was to identify how many PWBD were infected with HCV in Europe, as well as their health status and needs. HCV infection was defined as any person with a bleeding disorder who was exposed to the virus and seroconverted to become anti-HCV antibody positive. The survey also looked at testing and treatment availability. Between December 2016 and March 2017, the survey was distributed to 45 national patient organisations in the European Haemophilia Consortium (EHC), who were encouraged to respond with the support of a local hepatologist. The data gathered led us to estimate that some 15,000 people with bleeding disorders were infected with HCV in the 30 countries that responded. Although some countries have detailed records of patients with HCV, most - including some with national haemophilia registries - were unable to provide exact numbers of initial infections, HIV coinfection, survival and SVR rates. Responding countries reported varying degrees of monitoring for disease progression, as well as extremely divergent access to new direct-acting antivirals, with only eight countries prioritising PWBD for treatment. With liver disease and hepatocellular carcinoma being among the main causes of death in an aging bleeding disorders population, this survey identifies a clear gap in care. It is a frustrating paradox that today, in many European countries PWBD, such as haemophilia, may live long and productive lives due to much-improved access to factor replacement therapy, yet die prematurely of a curable disease such as hepatitis C. It has been demonstrated that HCV eradication in PWBD can be achieved through national commitment, especially when the patient population is limited and HCV eradication could be achieved in the short-term. The eradication of HCV in PWBD in Europe is an idea whose time has come.

These guidelines have been developed by an expert panel of haemophilia treaters to support the appropriate management of people with haemophilia in Egypt. Although the guidelines are based primarily on the World Federation of Hemophilia (WFH) Guidelines for the Management of Hemophilia, they aim to address unmet needs and local requirements in the Egyptian setting.

Transition is the term used to describe the process of approaching and crossing the chronological boundary between paediatric and adult care services. Transfer of care describes the administrative arrangements associated with moving from a paediatric to an adult service across this boundary.

Transforming Transition was a nurse-led initiative designed to facilitate the sharing of knowledge and experience to enhance transition practice in the UK. The aims of the programme were to secure changes in working practices that enabled nurses to drive improved transition outcomes, enhance self-management by people with haemophilia and develop clinical leadership. From the outset of the programme it was clear that there were differences in practice and that sharing practice would be one route to addressing some of these variations.

As a result of the knowledge and experience shared through the programme, resources described in this paper are available to all haemophilia centres. Sharing between people with haemophilia, their families and carers, and the haemophilia clinical team have resulted in the development of practical resources that enhance practice within the haemophilia centre. Sharing of practice between nurses and young people with haemophilia at the programme workshops provided a focus for development of local and regional action plans, a framework for reviewing progress, the introduction of transition clinics and improved transition documentation.

People with haemophilia and other bleeding disorders, such as von Willebrand’s Disease (vWD), are frequently diagnosed in childhood. There is, therefore, a recognised need to prepare children and young people with these conditions for transfer to long-term care in the adult sector.

The Transforming Transition programme was designed to facilitate the sharing of knowledge and experience to enhance transition practice in the UK. The aim of the programme was to secure change in working practices to enable nurses to drive improved transition outcomes, enhance self-management by people with haemophilia and develop clinical leadership.

As part of the programme, we captured young people’s views of their transition experiences by means of a series of structured interviews conducted with young people identified through the patient association. Interviews revealed that transition tended to take place around the age of 16 but could be delayed in response to individual circumstances. The transition process did not always appear to be planned, with many participants reporting an abrupt or sudden change between paediatric and adult teams and/or centres.

Those with severe haemophilia tended to be well educated and prepared by their paediatric teams to be confident in managing their condition from an early age. They would learn to self-infuse between the ages of 5-11, and reported feeling confident in tailoring their treatment around their daily routine. Experience of transition to adult services varied, with about half describing it as fairly well planned. For those with bleeding disorders such as vWD, there was rarely a transition process. These individuals and people with mild haemophilia described having less exposure to opportunities to learn self-management and appeared to experience issues which coincided with significant lifestyle changes, such as leaving home and attending university. This highlights the importance of ensuring that patients across the spectrum of bleeding disorders are adequately supported in the lead-up to and transfer to adult services. The interviews also reinforce the need to continue to address the specific needs of women with bleeding disorders as they transfer to adult services. The learning from this phase of the Transforming Transition programme was submitted to NICE as part of the consultation on its guideline.

Haemophilia impacts on the person who has it as well as his close family and friends. The majority of healthcare provider focus is with the person with haemophilia and his carers during childhood, and then on the person himself as he becomes able to self-manage. There is a belief that the family and healthcare team support the patient equally. In this study, which was designed to understand the patient/ carer/healthcare provider relationship, we investigated support mechanisms from the patient’s perspective, using narrative stories from those we call ‘witnesses’. Carers, family and friends rarely feature in haemophilia research, yet can provide in-depth insight into the life of the person with haemophilia. Three key areas were identified which underlie and cause tension in the world of haemophilia. These are described as ‘identity and tackling the lion’, ‘the haemophilia team’ and ‘the unique perspective and influence of the ‘outside-in’. Support from the ‘outside-in’ as well as healthcare providers is important for people with haemophilia for both physical and psychological health. Working together we can better support individuals with haemophilia as well as other members of their extended families. As haemophilia care changes in a new era of therapeutic options; we need to re-evaluate the supportive role of family and carers to ensure that the patient and family voice is heard in decision-making at an individual and national level.

Few would disagree that haemophilia presents challenges for everyone who lives with it. Perhaps the greatest of these is being denied the opportunities available to other people through fear of bleeding and joint damage. The regular infusions and clinic appointments that characterise treatment are certainly burdensome, and sometimes traumatic for children and parents alike; but being told ‘People with haemophilia can’t do this…’ is damning in its finality. It is enough to make you demand, ‘Why not?’ - which is exactly what Clive Smith and a growing number of people in the haemophilia community are asking.