Ankylosing spondylitis: Cutting the long wait until diagnosis
This research was completed on 31 March 2012
Published on 30 January 2009
Around 120,000 people in the UK have ankylosing spondylitis1 – an incurable form of arthritis that causes disabling symptoms, including severe pain in the back, buttocks and neck. Difficulties with diagnosis mean people suffer for a shocking five years on average before finding out they have the disease.2 During this time, their joints can be progressively and irreversibly damaged. Researchers are searching for a way to diagnose the disease earlier, so people can get the most appropriate treatment sooner.
What's the problem and who does it affect?
Five years until diagnosis
Around 120,000 people in the UK have ankylosing spondylitis.1 Sufferers endure severe pain in the back, buttocks and neck, along with stiffness and immobility. They can also experience swelling and pain in the hips, knees and other large joints, painful red eyes, and sometimes breathing and heart problems.
This disabling disease is a form of arthritis. It is more common in men than women, and typically begins between 15 and 35 years of age.3 The most severely affected can find they are forced to give up work completely.
Sadly, despite the severity of their symptoms, most people suffer for years, must visit several specialists and go for repeated scans, x-rays and blood tests before finding out what’s wrong with them. Indeed, the average time to diagnosis is a shocking 5 years.2
Although there is no cure for ankylosing spondylitis, treatment and special exercises can relieve symptoms. Indeed, new treatments can dramatically improve symptoms and quality of life for some sufferers. But the most appropriate treatment cannot begin until a full diagnosis is made. By this time, the disease may have already caused irreversible damage to the joints.
What is the project trying to achieve?
Developing a new blood test
The researchers are searching for a better way to diagnose ankylosing spondylitis.
Currently, doctors ask about sufferers’ symptoms and use scans and x-rays to look for tell-tale damage to bone. Difficulties arise for two reasons. Firstly, the type of back pain experienced in the early stages of the disease is extremely common and can result from many different things, including strains. Secondly, it can take years before characteristic bone damage shows up properly on scans and x-rays.
In this project, the researchers are trying to develop a simple blood test for ankylosing spondylitis. They are assessing the presence, and amount, of hundreds of different proteins in blood samples taken from people with the disease, and comparing the results with others from healthy individuals and from people with rheumatoid arthritis. They will also investigate whether assessing particular proteins in the blood can help predict how severe each person’s disease is likely to be in the future. Blood samples from around 200 people will be analysed.
What are the researchers' credentials?
|Project Leader||Dr P Bowness MRCP FRCP DPhil CSST|
|Location||University of Oxford, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford|
|Grant awarded||30 October 2008|
|Start date||1 April 2009|
|End date||31 March 2012|
|Grant code||SP4374, GN1742|
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The project leader, Dr Paul Bowness, is a leading expert in ankylosing spondylitis. Through his work as a consultant rheumatologist, he has a deep understanding of the needs of people with the illness. He is also a skilled researcher and has published numerous, important publications on the role of the immune system in the disease process.
Dr Bowness is working with Dr Benedikt Kessler, an expert researcher who came to Oxford from Harvard University. Dr Kessler specialises in proteomics – the study of the entire protein content of a cell, tissue or organism. A post-doctoral scientist will also be appointed to the project team.
The team has access to blood samples from around 140 people with ankylosing spondylitis who are being treated in Oxford, Bath and Berlin. They are analysing the protein content of blood samples using state-of-the-art equipment, including sophisticated machines called mass spectrometers.
Who stands to benefit from this research and how?
The researchers are hoping to develop the first ever blood test for diagnosing ankylosing spondylitis (existing blood tests only give strong hints). The new diagnostic test will probably work by measuring the level of several different proteins in the blood. The researchers hope it will provide rapid results and be straightforward enough for routine use.
If the blood test works as intended, the researchers believe it could allow much earlier diagnosis of ankylosing spondylitis. This could enable people to get the most appropriate treatment sooner, possibly helping to prevent disability and suffering, and stopping so many people from losing their jobs.
The researchers also think the test may be able to predict how severe each person’s illness is likely to be. This would allow doctors to identify who is most likely to benefit from new treatments called TNF inhibitors. These drugs can dramatically improve symptoms and function, and may also slow disease progression.
Currently, people can suffer excruciating back pain, stiffness and immobility for years without knowing what’s wrong with them or how their illness is likely to progress. Many don’t receive treatment until their joints have already been irreversibly damaged. Researchers hope the new blood test will help make some of this suffering and uncertainty a thing of the past.
- Eck J. Ankylosing spondylitis, Orthopedic Perspective. eMedicineHealth.com, last editorial review 5/14/2007. (http://www.emedicinehealth.com/ankylosing_spondylitis_orthopedic_perspec...)
- Braun J, Sieper J. Early diagnosis of spondyloarthritis. Nature clinical practice rheumatology. 2006; 2 (10): 536-545.
- McVeigh CM, Cairns AP. Diagnosis and management of ankylosing spondylitis. BMJ 2006; 333:581-5