Scientists in the United Kingdom are exploring the possibility that multiple sclerosis may be diagnosable through a simple breath test, which could greatly improve early detection and treatment efforts.
Is Multiple Sclerosis Detectable in Your Breath?
Multiple Sclerosis (MS) can be a particularly difficult disease to diagnose, but researchers at the University of Huddersfield Center for Biomarker Research (CBR) in the United Kingdom are hoping to change that with a new test that analyzes a person's breath for biomarkers of the disease.
When we breathe out, we exhale hundreds of volatile organic compounds (VOC), many of which were originally produced in our bloodstreams. As a result, these VOCs can often reveal details about physiological changes that are going on inside our bodies that would otherwise take much longer to be revealed through other forms of testing.
A 2017 study shows evidence that MS may be leaving detectable biomarkers of the disease in the VOCs in our breath, and the CBR researchers investigating the extent to which these biomarkers are present in our VOCs and whether these can be used to develop new tests for the disease that are as easy as blowing into a breathalyzer.
“There are over 100,000 people with MS in the UK and we often hear that the path to diagnosis is an incredibly stressful time," said Dr. Susan Kohlhaas, director of research for the MS Society. "The techniques used for diagnosis are invasive, expensive and often laborious, so this exciting development would address a major unmet need. Having a lumbar puncture and even an MRI scan can be an uncomfortable and unsettling experience, which we know people with MS are keen to change."
One such patient is Soo Lyon-Milne, from Stockport, UK, who lives with what's known as the secondary progressive form of MS, which is much harder to treat. It took a decade after her first symptoms appeared for her to receive a diagnosis.
“Had this test been available at the time my symptoms started," Lyon-Milne said, "doctors could have diagnosed me a good ten years sooner. There are no drugs for my type of MS and that might have given me a chance to have treatment. Also MRIs can be quite scary – I’ve never thought of myself as a claustrophobic person but I am in those machines. You put up with it of course, but the noise is unbearable and you have this contraption bolted right over your head. It’s nerve-wracking! Anything to help others avoid it would be fantastic.”
How Researchers Plan to Search for Multiple Sclerosis Biomarkers
The researchers have already begun taking breath samples from patients at different stages of their MS progression to compare against a control group of healthy samples. The researchers are hoping to find two things through this study. First, they hope to confirm the presence of VOC biomarkers that they can tie to MS definitively. If they can do that, they also hope that the detectable levels of such biomarkers track the different stages of the disease.
If they confirm the presence of MS-associated VOC biomarkers, then a test can be developed to help doctors diagnose the disease. If they find that the detectable levels of these VOC biomarkers are tied to different stages of the disease, then a breath test can also be used to track the progression of the disease over time, which would help doctors and patients find an appropriate course of treatment.
“While a breath biopsy test may sound futuristic," Kohlhaas said, "MS researchers today are achieving some incredible things – and these findings, whilst early, are very encouraging.”
About Multiple Sclerosis
Multiple sclerosis is a progressive neurological disease that attacks the nerves in your body. Over time, the damage caused by the disease can make normal activities like walking, talking, or even thinking more difficult, and can eventually make such activities impossible. The disease is increasingly painful as more of the nerves inside the body are damaged and destroyed by the disease.
"Anyone may develop MS but there are some patterns," says the US-based National MS Society. "More than two to three times as many women as men develop MS and this gender difference has been increasing over the past 50 years. Studies suggest that genetic factors increase the risk of developing MS, but there is no evidence that MS is directly inherited.
"Environmental factors, such as low Vitamin D and cigarette smoking have also been shown to increase the risk of MS. MS occurs in most ethnic groups, including African-Americans, Asians and Hispanics/Latinos, but is most common in Caucasians of northern European ancestry."
Worldwide, there are about 2.3 million people who live with an MS diagnosis, but due to the current difficulty in diagnosing the disease--even in wealthy countries with excellent medical resources--the number of people worldwide who have undiagnosed MS is unknown. It is almost certainly higher than the number of diagnosed cases, however.
The disease has no cure and while treatment may be available, the best it can do is slow down the progression of the disease. The best hope for treatment comes with early detection and intervention, which makes the prospect of a simple breath test for the disease a promising development for patients and doctors. So far, preliminary findings from the researchers point to the possible presence of identifiable VOC biomarkers, though it will take much more work to isolate any that are indicative of MS.
For a disease like multiple sclerosis, however, whose cause remains unknown and the consequences of which can be debilitating for many, any news that gives us insight into this disease is a reason to be optimistic as it brings us one step closer to effective treatments and maybe even a cure.