11 articles found
The Katharine Dormandy haemophilia centre has played an enormous role over many years in providing outreach programmes to centres in developing countries. Doing so offers the potential to improve patient care by enhancing understanding of the need for accurate diagnosis and management.
Advances in the understanding of haemophilia require effective collaboration, both at the national and international levels. Such collaborations are currently playing a major role in elucidating the natural history of acquired haemophilia, and also in clarifying the issue of product-related inhibitor development in previously untreated patients with haemophilia.
The issue of women with bleeding disorders was first reported by Professor von Willebrand in 1926, but it is only from around the mid 1990s that the issue has been fully recognised. Much of this is due to the vision and hard work of Professor Christine Lee and colleagues at the Katharine Dormandy Haemophilia Centre. This work has led to better diagnosis, better quality care and improved quality of life for women with bleeding disorders.
The development of registries through international collaboration has facilitated better understanding of the rare bleeding disorders. Such work has shown that rare bleeding disorders are heterogeneous and need to be studied singularly, and that heterozygous patients may bleed. There is a need to understand the minimum plasma coagulant activity level to prevent spontaneous bleeding. Moreover, due to the low prevalence of rare bleeding disorders, the management of this patient population remains a challenge. Data collection on clinical history, efficacy and side effects of treatment needs to be harmonised.
The multidisciplinary team approach to providing comprehensive care is the cornerstone of the management of musculoskeletal issues in haemophilia. At the Royal Free the team takes a holistic approach to musculoskeletal disease management that is not just about assessment of a painful knee or having an operation. It recognises that patients sit on a spectrum of musculoskeletal disease severity that is dependent on age and the type of treatments available and the issues that may have been experienced with those treatments. The patient’s own goals sit at the heart of the team’s approach.
Patients with haemophilia have benefited hugely from the advances in basic science achieved over the past 50 years. The introduction of clotting factor concentrates opened the door to home treatment and the subsequent availability of plasma and then recombinant products heralded the prophylaxis era. As clinicians and patients begin to manage the introduction of longer-acting factor concentrates, there are also many novel therapies and approaches in development, many of which offer the potential to transform the lives for individuals with inherited bleeding disorders and their families.
In recent decades, few disorders have benefited more from scientific research than haemophilia. Those living with the condition have witnessed improved standards of care resulting in dramatic improvements in quality of life. The Katharine Dormandy Haemophilia Centre and Thrombosis Unit has made a proud contribution to this improvement in care.
The HIV and hepatitis C epidemics of the 1980s represent the darkest days in the history of modern haemophilia care. The haemophilia centre at the Royal Free Hospital was at the forefront of research into the natural history of both diseases. This work led directly to the widespread use of recombinant products, as well as the establishment of combined haemophilia clinics with hepatologists and HIV physicians.
Modern haemophilia care based on good diagnosis and effective prophylaxis has allowed boys born with haemophilia to grow up leading essentially normal lives. Nevertheless, there remain challenges notably those posed by inhibitors and patient expectations. There is now a significant cohort of men in their 30s, 40s and 50s who have been looked after extremely well but many of whom now have significant ankle arthropathy because they played football, even when advised not to do so at a time when prophylaxis was limited or started late. The imminent era of longer-acting clotting factors and gene therapy will also impact on future patient expectations. Meeting and managing these challenges will be much enhanced by the development and maintenance of good relationships between the patient and the haemophilia team.
Staff at the Katharine Dormandy Haemophilia Centre pioneered a systemic family therapy model for haemophilia, in which reviews combined medical care and family counselling. That approach has now been extended to specialised joint clinics such as in orthopaedics, women’s and genetic counselling. This multidisciplinary team approach enables specialist clinicians to focus on what they do best while the family therapy team manages the psychological, practical and family issues, and supports patients to make difficult decisions regarding their care.
AAV-mediated gene therapy has the potential to be paradigm shifting as a treatment for haemophilia. A single administration of AAV vector can result in safe and consistent long-term expression of transgene (>5 years), reduction in spontaneous bleeding episodes, reduction in clotting factor usage and an improvement in quality of life. There is huge commercial interest in this approach, with the expectation that an AAV gene therapy product for haemophilia B will be licensed by 2020.