Multiple sclerosis or MS is an inflammatory autoimmune disease that causes demyelination, or damage to the protective coating of nerve cells, of the central nervous system which includes the brain and spinal cord. There have been major advancements in the treatment of MS that can prevent exacerbations in early disease, though new treatments are needed for the minority of patients that go on to progressive disease.
“When I trained in the 1970s, there was really no treatment for MS. Now we have incredible interventions, and every study has shown that the earlier we treat patients, the better the outcome,” said David Hafler, MD, FANA, Neurologist-in-Chief at Yale New Haven Hospital and Chairman of the Department of Neurology at Yale School of Medicine.
Historically, one of the most common barriers to treatment was a delay in diagnosis. Symptoms can present differently depending on the person and can change over time. In some cases, a patient may initially experience symptoms and then improve, only to have symptoms appear again years later.
Common symptoms can include:
- Optic neuritis, a condition that causes pain and vision loss
- Numbness
- Tingling
- Weakness
- Difficulty with mobility
- Fatigue
Treating MS
While symptoms may seem vague at first, there are some identifying factors that can help lead to a diagnosis. MS symptoms usually come on over hours to days or weeks. They don’t disappear after a minute or two. MRI imaging is used to identify evidence of brain lesions consistent with MS.
The MS Access program launched by the Yale Multiple Sclerosis Center is unique in that other providers concerned that a patient may have a symptom consistent with MS can put in a referral for their patient to receive an evaluation by a fellowship-trained neurologist, giving patients access to care sooner.
“One of the things we try and address all the time with a new MS diagnosis is redefining what an MS diagnosis means because our real hope is if we can identify patients early on and start them on effective medications early, that ultimately they can live their lives to the fullest without any limitation,” said Katherine DeStefano, MD, MS, Medical Director of the Multiple Sclerosis and Interventional Immunology Center and associate professor in the Department of Neurology at Yale School of Medicine.
The most effective treatment for patients with early manifestations of disease is B-cell depletion therapy, which involves an infusion. Treatments are not as effective for progressive stages of disease, which is why early diagnosis is so important.
Additional services offered at the Multiple Sclerosis Center include a support group, social worker and nutrition services, all aimed at helping patients with symptomatic management.
“We’re big believers in comprehensive care and treating everything from all sides. Not smoking, a healthy diet, staying active, vitamin D, and physical therapy are all important for patients with MS,” said Dr. DeStefano. “However, we don’t think those are enough to shut down the disease process. The goal is to identify patients and get them on medication, and then all those other things can help.”
Advancements in MS research
Researchers are still trying to pinpoint why some people develop MS, but it’s believed that a combination of genetic and environmental factors could trigger disease.
“The way I describe it is it’s not bad genes, not a bad environment. There is an interaction between genes and the environment,” said Dr. Hafler. “The present thinking now is disease is likely triggered by a very common virus that almost all of us are exposed to called Epstein Barr virus.”
Ongoing research at Yale School of Medicine aims to unveil a better understanding of what causes MS including potential environmental factors as well as genetic variances. For example, the DREAM cohort is studying first degree family members of patients to try and identify MS before any symptoms appear. Trials are also upcoming for progressive MS.
Learn more about MS research opportunities at Yale School of Medicine.
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