Developing models of haemophilia care

Haemophilia has been recognized as a bleeding disorder since its first descriptions from ancient texts. Its principal chronic manifestations affecting the musculoskeletal system, the clinical domain of specialists other than haematologists, were originally attributed to a separate rheumatic disorder. The protean symptoms and signs of haemophilia were attributed in toto to haemophilia only in the late nineteenth century [1]. As management of these symptoms are outside the usual clinical expertise of a single specialized clinician, care for people with hereditary bleeding disorders requires a multidisciplinary approach. The history of comprehensive care, embracing diagnosis, treatment and multidisciplinary support has evolved over the past 60 years paralleling the half-century history of the World Federation of Hemophilia (WFH). Dr Rosemary Biggs and her colleagues in Oxford, UK, established the earliest model, and there has been local adoption and global adaptation ever since. The Oxford clinicians were referred many patients for diagnosis and management of bleeding disorders and, through experience, developed standardized approaches to support surgical procedures and treat serious haemorrhages. They recognized that treating patients in a specialized centre provided better clinical and cost outcomes and called them ‘comprehensive care centres’. Such improved outcomes were critically dependent on collaboration between laboratory personnel, haematologists, surgeons and physiotherapists [2]. This is an early example of practice being driven by evidence, albeit not of the standards expected today. These clinicians presented their rationale for comprehensive care, which led to its further development internationally [3]. The WFH has long promoted the delivery of care for patients with inherited bleeding disorders through specialized centres using the comprehensive care model. A WFH meeting with the World Health Organization was held in Geneva, Switzerland, in 1990 to discuss ‘Prevention and Control of Haemophilia’ and a Memorandum was published [4] that recommended amongst other items ‘that each country should set up and fund a network of specialized haemophilia centres where patients can be diagnosed and treated with an integrated multidisciplinary approach’. The topic for another joint meeting, held with the International Society on Thrombosis and Haemostasis in London, UK, in 2002 was ‘Delivery of Treatment for Haemophilia’. Many recommendations related to issues of quality and standardization of diagnostic testing came out of the meeting. The recommendations as to delivery of treatment were that it be dispensed from a haemophilia centre, which was integrated into the existing healthcare system, that patients should be listed on a registry, that there be protocols for dosing and follow-up, which should be recorded as progress details (now commonly referred to as clinical outcome analysis), and that regular research and development be conducted to establish optimal treatment guidelines, which are quality assessed (evidence based) [5]. A further joint WFH/WHO meeting is being planned to review contemporary issues of comprehensive care, such as early introduction of low-dose prophylaxis, where replacement product supply is constrained. The WFH has recently published a fact sheet on the Structure and Functions of Comprehensive Hemophilia Treatment Centres (HTC) [6]. This information provides support for WFH advocacy activities to both implement and sustain effective haemophilia care. It highlights the interdependence of the coalition of multiple clinicians, patients and health planners in providing comprehensive care. It lists the functions of a contemporary HTC in delivering comprehensive care, which are: to provide and co-ordinate services for inpatient and outpatient care of patients and their families; to initiate, provide training for, and supervise home therapy with clotting factor concentrates (where available); to educate patients, families and other caregivers, including health professionals; and to collect data and, where possible, conduct research, recognizing that in order to promote and undertake research, it must be performed in an ethical manner according to the codes of good clinical practice. When we look at the WFH Development Model for national haemophilia care programmes, emphasis is put on the inter-relationships of government, funders, clinicians and patients in developing care delivery. There are currently five pillars: obtaining government support, enhancing the care delivery system, improving medical expertise for the diagnosis and management, making safe and effective treatment products available and enhancing patient organization capacity (Fig. 1). A sixth pillar, improving data collection and outcomes analysis, is being added. All of these components are required not only for the success of a national programme but also in miniature for individual HTCs. World Federation of Hemophilia steps for developing national haemophilia care programmes Early in a country development programme, a lead clinician, typically a haematologist and/or paediatrician is identified. They may receive training through WFH regional training or International Hemophilia Training Centre (IHTC) fellowships, for example, and be further supported to increasingly engage in the care of patients with bleeding disorders and to recruit other clinicians to the centre where patients are treated. Over 93% of past IHTC fellows who responded to a 2011 WFH impact evaluation of the IHTC fellowship programme remain in haemophilia care 5 years after their fellowship, an increase from 71% reported in 2006. Classically other members of the core team deliver nursing, physiotherapy, psychosocial and laboratory diagnostic services, but the qualifications of those responsible for musculoskeletal and psychosocial support will vary according to local training and professional culture. As the team expands, dentists, occupational therapists, rehabilitation specialists and physiatrists, infectious disease physicians, hepatologists, genetic counsellors, psychologists and so on may contribute. All discipline specialists are eligible for WFH IHTC fellowships and are encouraged to attend regional disciplinary workshops to support complementary team development in key centres. Clinicians will frequently work closely with government and patients outside their clinical roles in an expert advisory capacity. The model of specialist aggregation to provide integrated care was rapidly adopted from the 1970s and publications soon followed as to the clinical effectiveness and improvements over ‘non-aggregated’ care. Levine and colleagues reported a reduction in days of hospital admission and consequent treatment costs in 1976 [7]. In 1984 Smith et al. [8] described benefits of comprehensive care accruing from a 5-year study of patients’ outcomes, including improved health and employment rates (decreased absenteeism and hospitalization times), as measured before and after introduction of a funded programme to provide comprehensive care centres [8]. They recommended ‘the early application of comprehensive care as it was preferable to the previous emphasis on end-stage rehabilitative efforts’. In contemporary terms we can urge the adoption of prophylaxis as preferable to episodic therapy. Further studies reporting analyses of multiple haemophilia registries from the USA and Europe confirmed lower mortality, improved quality of life and fewer hospitalizations for patients whose care was supervised through an HTC [9,10]. These examples highlighted the vital role of registries. In particular, the Universal Data Collection (UDC) system, a surveillance system established in the USA HTC network in 1998, has provided a rich opportunity for researchers to report on many aspects of treatment outcomes in joint disease, inhibitor prevalence, viral infections such as HIV and hepatitis, physical function and educational achievements, as standards of care evolve [11]. Primary and secondary prophylaxis programmes are becoming more widely implemented, due to widespread knowledge of their clinical superiority over episodic therapy and increased product availability in many countries. Registries will offer opportunities to study (and project) whole of lifetime care of the clinical and economic costs and benefits of much extended, even lifelong, prophylaxis. More data is needed, particularly where delayed prophylaxis is introduced in adults, where clinical benefit is not as well defined, as yet, as in children [12,13]. The development and organization of comprehensive care for patients with inherited bleeding disorders is a pioneering example of what is now recognized as chronic disease management. Disease management (DM) as defined by the Disease Management Association of America is a ‘system of co-ordinated healthcare interventions and communications for populations in which patient self-care efforts are significant’. Their programmes are developed to support clinician–patient relationships and plans for care. There is an emphasis on pre-emptive intervention to reduce symptoms that would otherwise lead to hospital admission or emergency department presentation. Clinical, humanistic and economic outcomes are evaluated on a continuing basis with the goal of improving overall health, such as a measured reduction in unscheduled hospital visits. DM models in the general community can be adapted to be disease-specific, such as for chronic heart failure or chronic obstructive pulmonary disease. Many governments and health funders are familiar with the concepts of DM and look favourably on proven health and cost benefits. Presenting comprehensive care for people with bleeding disorders as a DM model familiarizes and alerts health policy practitioners to our patients’ needs both in and out of hospital. We can use the terminology of DM to promote our community requirements with emphasis on the preventive strategies of physiotherapy and prophylaxis, for example. Multidisciplinary teams are recognized as essential to effectiveness of DM programmes, another essential component of comprehensive care. Mechanisms for monitoring and reviewing both individual patients and programme strategies include: performance and documentation of patient self-monitoring (an example for haemophilia could be review of bleeding records and product infusion responses at the time of consultation with a clinician), regular and as required communication, and engagement and education of local clinicians outside the HTC. Individualized treatment care plans are developed and agreed by the patient and clinicians. These will include product escalation protocols and advice on exercise and maintaining a healthy weight. Consistent with DM practice, serial iterations of a patient’s treatment plan are informed by review of bleeding history, product infusion records and repeated physical and psychological examinations using validated assessment tools for haemophilia (and other bleeding disorders, where available) [14,15]. Audit is best performed by external assessment. A ‘national service specification for haemophilia and other inherited bleeding disorders’ was published in the UK in 2001 with revision in 2006 [16]. This document includes recommendations and specifications for triennial audits of designated HTCs. The Triennial Audit Committee, in their 2011 report, advised that the next cycle of audits should take place in 2012. Audit teams are multidisciplinary and include patient members. They record in both template and free text format results of their review of many aspects of HTC service provision such as competence in laboratory (including genetic) testing, data collection and management, provision of and compliance with approved treatment and dosing protocols, staffing levels, education and competency training and patients’ satisfaction and involvement in their care [16]. Other countries such as Canada are developing similar audit programmes [17]. Where external audit programmes do not exist, individual HTCs or a regional cluster of centres may set up internal audit programmes, using the UK or other relevant models to benchmark their own processes and performance. A recent document on principles of comprehensive care in Europe highlights particular responsibilities of HTCs: to arrange for supply of safe clotting factor concentrates (CFCs) for use in home treatment and prophylaxis programmes (where possible), to contribute data to national registries and to record local treatment practice and outcomes, education, training and research – all of which can be audited given the appropriate training and infrastructure for data collection [18]. Whatever the amount of CFC available, the aim of a national or regional policy is to optimize care through equity in patients’ access to accurate diagnosis and appropriate care. Such a policy should also outline expected standards of comprehensive care and measures for audit and resource accountability. Separate from the principles of care, locally agreed upon and evidence-based treatment guidelines, such as the WFH Guidelines for the Management of Hemophilia, are critical to the development, practice and audit of optimized care, considering the available resources [19]. Registries are an essential tool for audit processes, and data, where possible, should be collected nationally. They are the most effective means of collecting information on rare diseases, such as inherited bleeding disorders, which is necessary to inform all stakeholders – clinicians, funders, patients and suppliers – of the distribution and prevalence of the disorders and the patients’ morbidity and treatment needs to forecast future resource requirements. Data submitted to a national registry may, at least in early iterations, be no more complex than basic demographics. Individual HTCs can enhance the number of elements collected to include clinically useful tools of laboratory and clinical assessment and treatment. These support clinical management and audit activities. As national systems upgrade, there should be early agreement to standardize data collection and recording. Widespread commitment to recording of unexpected or serious events following treatment as performed by the European Haemophilia Safety Surveillance System (EUHASS) provides a rapid alert system for the international bleeding disorders community, and registration is available outside the European community [20]. Data collection and registries can also help build national treatment centre networks. Linking and communication between healthcare providers across the country adds benefits beyond simple data collection. Optimal care for severe haemophilia has been defined as ‘accurate diagnosis, early and adequate factor replacement for bleeding episodes and the provision of prophylaxis from an early age to prevent joint bleeding and the consequent arthropathy’ [21]. Whatever our resources, our aim is to optimize care – but have we achieved optimal care? With new imaging modalities such as magnetic resonance imaging (MRI), joint damage is described in the absence of clinically recognized bleeding [12]. Our present aim of recapitulating the phenotype of moderate haemophilia with regular replacement therapy in patients with severe haemophilia does not confer a ‘non-bleeding’ state, particularly with trauma. Optimal care, the achievement of a yet more robust haemostatic state, remains to be defined as we explore new technologies, such as gene transfer therapy, and products modified for increased expression and in-vitro half-life. These terms describe distinct concepts in care, although sometimes have been used synonymously. Personalized medicine is an outcome of the human genome project, which was first reported in 2000. A commentary entitled ‘The Path to Personalised Medicine’ highlighted the vision of matching personal genomic information with the development and delivery of a personalized prescription to ‘the right person, of the right drug at the right dose and right time’ [22]. The right research and regulatory environments also need to be established to achieve these aspirational goals. Haemophilia is already represented as an early player in genomics. Knowledge of the causative mutation(s) for haemophilia, together with information of immune response and other genes, may in the future more safely stratify patients to participate in research studies and/or be prescribed different, more customized replacement products [23]. Patients with bleeding disorders do have a personalized management plan drawn up with their treatment team. This is individualized according to product type, physical activity and bleeding experience. Our patients and their families have expectations of the best possible care from their comprehensive care team. HTCs should support and be supported to embrace a culture of education and research in partnership with their patients. A new programme funded by the National Institutes of Health in the USA is supporting the research of efficient, reliable and valid assessment of adult- and child-reported health to provide clinicians and researchers with data about the effects of disease and treatment from the patient’s perspective, which are not found in traditional clinical measures [24]. It is called Patient Reported Outcomes Measurement Information System and training is presently being offered to staffs of HTCs. This will be a very interesting area to follow. Promotion and support of comprehensive care remains an integral part of several objectives of the 2012–14 WFH strategic plan [25]. We shall continue to promote the development of national care programmes using multi-year development plans to achieve sustainable comprehensive care in developing and emerging countries. Knowledge is shared through exchange of information, education and training, and we are paying particular attention to promotion of good clinical practice and multidisciplinary care at Congress and at other training activities. We are providing leadership in the establishment of global treatment guidelines and standards of care [19]. As part of our new research strategy, we are enhancing our global data collection to include outcome analyses to support advocacy for improved treatment and to inform health planning processes. Our research programme, as funded, will also support global research through targeted mentorship, training and educational programmes for patients and the multidisciplinary team. The haemophilia community pioneered today’s model of DM and called it comprehensive care. Tomorrow’s improvements depend not only on scientific and technological advances but also on our collective will to adopt new strategies and assessment and audit tools to support our continued advocacy for the bleeding disorders community [26]. The authors stated that they had no interests which might be perceived as posing a conflict or bias.

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