Grazina Berry from Aplastic Anaemia Trust, along with Professor Judith Marsh and Dr Shreyans Gandhi from King’s College Hospital NHS Foundation Trust, explore the rare and serious condition of aplastic anaemia (AA)
Aplastic anaemia (AA) is a rare and serious bone marrow failure disorder that can be fatal. Most cases are acquired, but it is increasingly recognised that inherited types of AA are more common than previously thought and can present in adults, not just in children. AA may be mistaken for other bone marrow failure disorders.
In most cases, it is an auto-immune disorder, where the immune system attacks the stem cells. These cells are the ‘queen bee’ cells within the bone marrow making all the different type of blood cells. This results in a deficiency of the blood making cells and the consequent downstream effects of low blood counts, in all the cell types.
The three main blood cells are the red blood cells, white blood cells and platelets. In aplastic anaemia, these blood cells are reduced and the stems cells in the bone marrow – replaced by fat cells. AA can be very severe, severe or non-severe.
Deficiency in red cells causes anaemia and people affected may experience fatigue, shortness of breath, headaches and occasionally angina chest pain. A low number of white blood cells increases the susceptibility to infections, such as sinus/throat, skin and chest infections. Low platelets cause a tendency to bleed, leading to nose bleeds, unexplained bruising, blood blisters in the mouth, but also serious bleeding episodes such as into the brain cavity or from the gut which can be fatal.
AA can affect anyone – of any gender, of any age, but it peaks in the young (late teens/early adulthood) and the elderly (around 60 years).
Treatment for AA is complex, often prolonged and involves high cost medications not easily available. These include immune suppressing medications, stem cell transplantation and the newer generation drugs like ‘eltrombopag.’
Missing a diagnosis of inherited AA can result in the wrong treatment that can be fatal or result in life threatening side effects and missing other possible family members who have inherited the same condition.
Treatment for inherited AA is different from acquired AA. The diagnosis of inherited AA requires special tests including gene testing, but this gene testing is not routinely available for all the known inherited types of AA. Neither the number of AA patients being diagnosed each year in England is known, nor how successful all types of treatments are.
Immuno-suppressive treatment has been the cornerstone of treatments in AA, to stall and prevent the immune attack on the stem cells. The alternative major treatment approach is stem cell transplantation that replaces the damaged cells with healthy stem cells from a ‘matched’ sibling or volunteer donor.
AA treatments are prolonged, complex and high cost. We do not definitively know the prevalence of AA in England, although it is estimated that between 1-2 adults will be diagnosed in every 1 million people, or over 100 in England annually. There is no formal reporting of treatments and their outcomes (other than stem cell transplants) and no routine referral system for specialist opinion.
The Aplastic Anaemia Trust is the only organisation in the UK, in existence for over 30 years, dedicated to raising funds to enable research and providing much needed emotional and practical support to patients and their loved ones. And we cannot and do not operate alone. We believe in the power and importance of collaborations in research and treatment and have enjoyed long-standing effective working relationships with leading clinicians at St Georges, King’s College Hospitals and other treatment centres in the UK.
A good example is our clinician colleagues at King’s College Hospital, London who have been working tirelessly to enable a better understanding of the disease and explore treatment options for patients across different demographic categories. For example, they’ve been reviewing stem cell transplant outcomes from the international bone marrow registry database in a cohort of patients aged greater than 50 years with aplastic anaemia. This has confirmed a sentiment long held that stem cell transplantation is a very feasible option in a good proportion of patients who might be elderly but are otherwise fit and healthy. However, treatment guidelines for older patients with AA are incompletely developed and stem cell transplantation often remains a late or unconsidered line of therapy for patients who have not responded to standard immune – suppressive treatment. They are also exploring novel therapies based on the research they are doing in the laboratory.
Whilst good scientific progress is being made, numerous challenges remain:
- Statutory funding available for research into rare bone marrow failures is extremely limited;
- Existing resources for patients are stretched, thus focusing on clinical rather than psychosocial, emotional and practical support;
- The understanding of AA and its causes is still limited, as is routine genetic testing (restricted to only a few academic centres in the UK) – leading to challenges in diagnoses and therefore treatment of patients;
- There is no formal and consistent pathway for specialist advice for patients;
- Whilst estimates suggest that between 100 and 150 people are diagnosed with AA every year in England alone, many of whom are children and older adults, the exact numbers of patients diagnosed annually is unknown, as is the variety and effectiveness of treatments undertaken and;
- Whilst success rates of bone marrow transplantation continue to improve, with around 80% of patients surviving, this is dependent on the age of the patient, and treatment and recovery are long & costly processes with profound impact on patients and their families.
The effects of the disease are devastating for patients and for their families and friends, not to mention the financial hardships for people afflicted during the ‘working years of their life’ – making a strong case for the co-ordination of health care, emotional well-being & practical support to deliver the most and best holistic care of people with this rare but devastating illness. The existence of organisations like ours – close to what the patients’ needs are and nimble enough to act fast and effectively, is crucial.
Of utmost priority is the need to gather and analyse systematically key data to support healthcare providers to plan effectively for future AA services, to improve accuracy of diagnosis of inherited and acquired AA, to provide healthcare quality improvement and efficient continuity of care to enable correct and equitable access for expensive and new treatments, ensuring appropriate use of the limited resources but with maximal output within our health service system.
Aplastic Anaemia Trust
Tel: +44 (0)7748 186 858
Professor Judith Marsh and Dr Shreyans Gandhi
King’s College Hospital NHS Foundation Trust
Tel: +44 (0)20 3299 9000