18/07/2017 10:01 BST | Updated 18/07/2017 10:01 BST

Research Holds The Key To Helping Those Affected By Rare Diseases

There are 2.5 million people world-wide living with scleroderma, 12,000 in the UK. It is a rare auto-immune condition which can cause serious health complications, including irreversible damage to vital organs. And yet the long term health and quality of life for people with this potentially life threatening condition remains uncertain unless an early diagnosis is made.

A recent study by Scleroderma and Raynaud's UK (SRUK) showed that people with scleroderma are waiting at least two years and have more than five appointments with their GP before receiving a diagnosis. Over a fifth had to make more than 10 visits to their GP and 6% had to wait more than 10 years to receive a diagnosis.

One of the reasons for this may be that the first symptoms of scleroderma can often be subtle. Most patients will have been suffering with Raynaud's (a spasm of the vessels of hands and feet in response to cold or stress) for some time and symptoms such as hand swelling is dealt with as a side effect of the Raynaud's. Other first symptoms are fatigue and heartburn, also very non-specific, which can make a diagnosis difficult.

More training for GPs and health care professionals in recognising the symptoms would undoubtedly help in reducing diagnosis times. Practically, together with training, a flow chart on how to address symptoms that may be very common if isolated, but together can define the onset of a connective tissue disease like scleroderma, would be a good starting point.

New technology piloted at the SRUK mobile clinic in Leeds, will also help to reduce diagnosis time. Simple capillaroscopy testing (looking at blood vessels under a strong microscope) is already used within the NHS and validated as a diagnostic tool for scleroderma. Thermography is still a "research" tool, but in future I believe it will be helpful in determining whether patients with secondary Raynaud's show different patterns at thermography compared to those patients with primary Raynaud's.

But in my opinion, one of the most effective ways in which we can advance treatment for scleroderma, and subsequently reduce waiting times for diagnosis, is through research. Screening for rare diseases in specialist centres is not feasible. By definition, these conditions are rare and the specialist centres can never afford to screen the entire population to diagnose the 0.1% or less patients affected. Research into these conditions will identify blood or imaging tests that can be prescribed by GPs and eventually trigger referral of patients at high risk or with a clear diagnosis.


Awareness campaigns and studies can help us to increase the amount of medical research funding allocated to rare diseases. This is why the medical community is working closely with SRUK, the only charity dedicated to improving the lives of people affected by scleroderma. In addition, time and resources devoted to learn the natural history of common symptoms like Raynaud's will help us to identify the steps or causes responsible for progression to scleroderma for a limited number of Raynaud's patients.

Further, once patients are diagnosed with Scleroderma there is much to do on how we improve the care we can offer. Scleroderma is a systemic disease that can benefit from an integrated approach to clinical care. As healthcare providers we should facilitate the implementation of scleroderma clinics where consultants in different specialties (like Rheumatology, Cardiology and Respiratory medicine, Nephrology, Gastroenterology) and health professionals like podiatrists, psychologists and physiotherapists or occupational therapists, have the possibility to assess patients in a one stop clinic. This would integrate the care, reduce the time that patients have to spend in so many appointments and altogether reduce the burden that scleroderma has on patients.

Looking to the future however, I am convinced that the best way to improve the outcome of an effective drug is to administer it even before the symptoms start. The NIHR Biomedical Research Centre funded in 2017 in Leeds is completely focussed on predicting the onset of scleroderma, as well as other autoimmune diseases. Prevention clinical trials have never been designed so far because of the lack of clear predictors of progression to disease in a reasonable amount of time. With the work on biomarkers that we have been doing, we are confident that we will be able to detect the advancement from Raynaud's to Scleroderma 12 to 18 months before the onset of the symptoms. These patients could be invited to clinical trials to "prevent" the onset of scleroderma with a potentially tremendous gain for them and society.

For more information on Scleroderma and Raynaud's visit