04 March 2020

Spotlight on an ultra-rare illness – aplastic anaemia

4th March is the Aplastic Anaemia Awareness Day. To mark this day, the Aplastic Anaemia Trust launches its AATea Party, encouraging groups of supporters up and down the country to get together over a cuppa and cake, to raise awareness of this ultra-rare and life-threatening bone marrow failure in their local communities.

What is aplastic anaemia?

Aplastic anaemia (AA) is a rare and serious condition that can be fatal. It can affect anyone – of any gender, of any age, living anywhere, but it peaks in the young (late teens/early adulthood) and the elderly (around 60 years). AA can be very severe, severe or non-severe.

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 - essential for 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. As a result, an individual cannot lead a normal life:

  • 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 (intracranial haemorrhage) or from the gut (Gastrointestinal bleeding) which can be fatal.

What are the main challenges?

Challenges presented by AA diagnosis are numerous and complex, both clinically and related to a patient’s quality of life.

  • Treatment for AA is complex, often prolonged and involves high cost medications that are not easily available. These include immune suppressing medications, stem cell transplantation and the newer generation drugs like ‘eltrombopag.’
  • Eltrombopag for the treatment of adults with severe or very severe AA is only available via Individual Funding Requests (IFRs) made to Clinical Commissioning Groups, on an exception basis. This has resulted in an unfortunate postcode lottery, with many patients needing the drug, but unable to access it.
  • Missing a diagnosis of inherited AA can result in the wrong treatment that can be fatal or lead to 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.
  • The exact number of AA patients being diagnosed each year in the UK is unknown, nor is it known how successful all types of treatments are. But it is estimated that 1-2 individuals are diagnosed in every 1 million people, or over 120 in the UK 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 as well as information to patients and their loved ones.

Our community of patients and their families affected by AA has grown to over 1,600 today.

Awareness campaigns and the disease awareness day help us draw attention to the devastating effects of an AA diagnosis on the individual and the entire family.

These effects include a profound psychological impact and significant 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 best care for everyone touched by this rare and 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 and to improve the accuracy of diagnosis of inherited and acquired AA.  Healthcare quality and care co-ordination must be improved. Every patient must have equitable access for expensive and new treatments, ensuring appropriate use of the limited resources but with maximal output within our health service system.

 To find out more about aplastic anaemia and the work of the Aplastic Anaemia Trust, please visit the AAT’s website – www.theaat.org.uk

Written by Grazina Berry
Chief Executive Officer 
The Aplastic Anaemia Trust