A recent study conducted by Scleroderma and Raynaud’s UK (SRUK) revealed that people with scleroderma are waiting at least two years and have been through more than five appointments with their general practitioners before receiving an official diagnosis.
Over a fifth of patients involved in the study had to make more than 10 doctor’s visits and 6 percent had to wait more than 10 years for a diagnosis.
There are currently 2.5 million people living with scleroderma throughout the world. The autoimmune condition can cause serious health complications, such as irreversible damage to vital organs. Long-term health and quality of life for scleroderma patients, however, is difficult to completely determine unless a diagnosis is made early.
The study noted that one of the reasons scleroderma is not being diagnosed quickly and consistently is the subtlety of early disease symptoms. Most patients will have been suffering from mild bouts of Raynaud’s syndrome, causing doctors to treat related symptoms such as cold hands and feet, and hand swelling under the patient’s Raynaud’s diagnosis. Other initial symptoms include heartburn and fatigue, which are non-specific issues.
While the study emphasized the need for more extensive training for general practitioners in identifying and diagnosing scleroderma, SRUK has also been piloting new technology at a mobile clinic in Leeds, which could cut diagnosis time in half. Other tools supported in the study included simple capillaroscopy testing, which involves blood vessel review under a strong microscope, and thermography. Though it is still considered a “research” tool, success with thermography has been on the rise in determining whether a patient’s Raynaud’s syndrome is presenting itself alone, or in a primary state, or if it is a secondary condition on another illness, such as scleroderma.
At the heart of the SRUK study, however, was the call for more substantial research not only in the tools of diagnosis, but in the disease, itself, and subsequent treatments. Recognizing that rare disease screening is not a feasible endeavor for specialist centers when looking at the population as a whole, particularly when the rare disease only affects 0.1 percent of that population. That being said, research into conditions, like scleroderma, not only bolsters general practitioner understanding of such illnesses, but can help identify new tests and tools in making faster diagnoses that can then lead to specialist center referrals once the diagnosis has been narrowed down.
Dr. Francesco Del Galdo, an associate professor in the Head of Scleroderma Programme at the Leeds Institute of Rheumatic and Musculoskeletal Medicine, said that an added benefit of early diagnosis is the early administration of helpful treatments.
“Looking to the future… I am convinced that the best way to improve the outcome of an effective drug is to administer it even before the symptoms start,” Del Galdo wrote in response to the study. “The NIHR Biomedical Research Centre funded in 2017 in Leeds is completely focused on predicting the onset of scleroderma, as well as other autoimmune diseases. 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.”
While continuing to support scleroderma research, there are ways to combat specific disease and Raynaud’s-related symptoms, such as the use of self-heating scleroderma gloves to help cold hands no matter what the day brings.