A joint research programme at two Dublin hospitals aims to make diagnosis earlier and more effective, writes RONAN McGREEVY
AUTOIMMUNE DISEASES such as rheumatoid arthritis and the Spondylarthropathies (SpA), which include debilitating conditions such as ankylosing spondylitis (AS), psoriatic arthritis and Crohn’s disease, are among the most common and difficult to treat chronic illnesses in medicine.
It is estimated that 1-2 per cent of the Irish population (40,000-80,000 people) have some form of rheumatoid arthritis and a similar amount have a SpA.
Autoimmune diseases, where the body attacks its own defences, are notoriously difficult to treat or cure and can mean painful chronic illness and misery for those affected.
The diseases can manifest themselves in parts of the body that don’t appear to be connected and symptoms can present themselves in seemingly unrelated ways.
For example, there is a connection between patients with certain eye conditions and those with joint conditions such as rheumatoid arthritis and AS.
The nexus between the two is the subject of a potentially exciting research programme between the Royal Victoria Eye and Ear Hospital (RVEEH) and St Vincent’s Hospital in Dublin.
For many of these conditions, patients are at increased risk of developing ocular diseases, and likewise for those presenting with ocular conditions, who have a higher risk of experiencing autoimmune diseases.
The collaboration allows both hospitals to share relevant patient information, making it easier for them to identify those at high risk or requiring rapid referral, with the aim of improving patient access and treatment pathways.
The aim is to work out a system so the patients are appropriately assessed and treated when they present for diagnosis.
Prof Conor Murphy, consultant ophthalmologist at the RVEEH, cites the example of a condition called acute anterior uveitis (AAU) as one which can lead to different diagnoses.
This is a disease which causes pain, light sensitivity and blurred vision, and is one of the most common eye conditions seen at the RVEEH.
In half the cases, those who have the illness also have one of the Spondylarthropathies, most notably AS.
Using the new protocol developed by both hospitals, patients will be asked if they experience back pain too, and a blood test will be performed for the presence of a gene called HLA-B27, which is much more prevalent in people with SpA than in healthy individuals.
They in turn will be referred back to St Vincent’s rheumatology department for MRI and clinical assessment, which is the gold standard for the detection of early SpA.
“The overall objective is to try to determine the clinical features on presentation with AAU that help confirmation of SpA and aid early diagnosis,” explains Murphy.
“With early detection comes early and more effective treatment and disease control, and hence better quality of life.”
A second focus is on temporal arteritis, which is the most common form of vasculitis (inflammation of the blood vessels) that occurs in adults. It mainly manifests itself in elderly people.
Temporal arteritis commonly causes headaches, joint pain and difficulties with vision, but can be difficult to diagnose because it manifests itself in so many symptoms.
It is commonly treated by rheumatologists, but often these patients present first of all to ophthalmologists.
It is hoped to bring forward an algorithm which would ensure that the symptoms of this illness can be first recognised when patients present themselves to an ophthalmologist.
The joint team are also working on developing a treatment for Sjogren’s syndrome (SS), a condition which causes chronic inflammation of the lachrymal (tear-producing) and salivary glands and can be associated with a variety of rhematological conditions such as rheumatoid arthritis and Lupus.
They hope to use specialised treatments on the surface of the eye to try to determine how the condition can be treated.
For Fitzgerald the outcomes for those with SpA have been radically altered in recent years, making early diagnosis critical.
“There is no doubt that earlier diagnosis can prevent the damage and deformity that can occur with these various forms of arthritis. Loss of movement and loss of function can be prevented by early intervention,” he says.
The standard disease-modifying treatment for such conditions is methodrexate (MTX), a drug that is used in the treatment of all forms of arthritis.
“Early introduction with appropriate treatment can lead to long-term remission and the patient can remain very well for many years,” he says.
In the case of SpA, the first line of approach is the use of biologic agents, which stimulate the body’s own immune system to fight infection and disease.
Fitzgerald says the biologic agents have changed the way SpA is treated to the extent that early diagnosis has become even more important, hence the initiative between St Vincent’s and the RVEEH.
The ultimate goal is to establish a collaboration between the two hospitals that can be rolled out to similar institutions, both nationally and internationally.
“Things are progressing very nicely. We feel we can spread this care pathway out to other institutions, so that everybody who presents with a problem gets the appropriate diagnostic tests and appropriate treatments because at the moment it varies,” says Fitzgerald.
