What is MS exactly? What are some of its main symptoms?
MS is a chronic autoimmune disease affecting the brain and spinal cord. Although MS can cause many symptoms, fatigue is the most common symptom. However, fatigue is a common symptom for many diseases, unfortunately. The more traditional symptoms in MS include loss of vision, double vision, weakness, numbness, bladder issues and loss of coordination.
MS is three times more likely in women than men. Why is this?
This is not entirely clear and has been a bit of a moving target. In the early 1900s, this was actually the opposite with more men than women being diagnosed with MS. This may have to do with a better ability to diagnose MS. It is thought that hormone levels may play a role.
What are the four types, or courses of MS, and how do they range in severity?
There are three main types of MS courses recognized today. About 85% to 90% of patients present with relapsing MS. Without treatment, about half of these patients develop a progressive course of MS and are called secondary progressive MS. The remaining 10% to 15% start off with a progressive course and are called primary progressive MS. A fourth group called progressive relapsing is very rare and not recognized anymore.
Patients accumulate more disability with each relapse, but our treatments are really good at stopping these attacks. So once these are controlled, disability accumulates more in progressive patients – albeit very slowly. Patients who are male, diagnosed younger, are Black or Hispanic, or show signs of more inflammation (more lesions, more severe relapses) tend to have more disability.
In what age range does MS generally get diagnosed?
Usually 25 to 40, but patients can be diagnosed at any age.
Does it reduce the average lifespan? By how much?
MS reduces the average lifespan by only a few months, and this is quickly coming down. MS is more of a morbidity disease than a mortality disease in that it does not increase the rate of death, but it does lead to disability that is cumulative in patients.
How is MS treated?
We have great treatments for relapsing MS that can stop the disease. These come in the form of pills, injections and infusions. Treating progressive MS is more of a challenge, but we are starting to have treatments that can slow this down.
How is it diagnosed?
MS is usually diagnosed after a patient presents with symptoms that suggest MS. This often leads to MRIs of the brain and spinal cord that show lesions characteristic of MS. We have to rule out other conditions if there is a suspicion, and this can involve spinal punctures (taps), bloodwork, eye exams, etc.
Up to 20% of people diagnosed with MS are later found not to have the disease? Why is it difficult to diagnose?
MS can present with many symptoms, but we look for classic symptoms to help get the diagnosis right. This requires experience in diagnosing and treating patients with MS. As mentioned, fatigue is a common symptom, but fatigue is common in other conditions and thereby does not mean that a person has MS.
The same goes with lesions on a brain MRI, which are common, but MS lesions have characteristic locations, sizes and shapes. Putting together symptoms and MRI findings in addition to other testing if needed is important, and we do not rely on any one test or finding to diagnose MS. So, in most cases, diagnosing MS is not difficult, but we are still learning. The second most-common disease that neuroimmunologists see, such as myself, is neuromyelitis optica, which was a type of MS until 2006 and now recognized as a separate disease. Every year we are identifying new diseases that were often confused with MS!
How important is timeliness of diagnosing MS and what effect does it have on a person’s long-term prognosis?
This is very important. Disability in MS increases until well controlled, and the chances of becoming progressive increase until we have good control of the relapses. Since we can’t fix disability, our best hope is to prevent its accumulation.
The cause of MS is still unknown. Is any progress being made on finding its cause?
The cause for MS is complicated and involves a combination of genetics and the environment. We are learning more and more how these factors combine to lead to a diagnosis of MS. For example, vitamin D is often made by sunlight and people farther away from the equator had been noted to have a higher risk of developing MS. We now understand that vitamin D helps drive the expression of certain immune genes that have been identified to affect the risk of MS.
Colorado has a high prevalence of MS compared to other states. Can you explain why?
We use the number of a prevalence in Colorado of 550 cases per 100,000, which is nearly twice that seen in the U.S. of around 310 per 100,000. There is no clear reason for this, but factors such as having a larger Caucasian population and being at a higher latitude may contribute. I think one of the larger reasons is that neurologists in Colorado are acutely aware of this disease and look for it. So, patients are diagnosed earlier and more often than in other parts of the country.