Q&A with Anne H. Cross, President of the Consortium of Multiple Sclerosis Centres

What challenges do MS patients currently face when seeking an initial diagnosis for their condition?

When a person develops neurological symptoms that might be from multiple sclerosis (MS), such as visual changes, weakness in 1 or 2 limbs,  or incoordination, or changes in sensation, they first have to make the step to see a doctor (ideally a neurologist). The clinician they see then must consider MS as a possible diagnosis. It is important therefore for a person with new neurologic symptoms to see a doctor and to provide a chronological list of their symptoms.  However, sometimes the first symptoms are not typical of MS, or are so mild that the clinician cannot find anything wrong on examination. It is important for the patient to have an MRI (magnetic resonance imaging) done of  their brain and spinal cord as part of the process of being diagnosed. Sometimes spinal fluid is obtained for analysis. That is done by lumbar puncture (or “spinal tap”). Certain findings in the spinal fluid are typical of MS.  We now are aware of a handful of mimics of MS, and at least two of them can be diagnosed with blood tests.  These may need to be excluded if MS is a diagnostic possibility. Challenges occur when patients have an atypical presentation and MS is not considered initially as a possibility.  It is important to realize that MS is common – about one in 1000 people in the United States have MS

How can early diagnosis and intervention impact a MS patient’s treatment and quality of life?

This is a great question. MS is an inflammatory neurological disease that is restricted to the central nervous system. Most people have relapsing MS, which can be relapsing remitting in course, or be progressive but have superimposed relapses or “attacks.”  Relapsing MS is the easiest form of MS to treat.  We have a number of therapies that can reduce the number of relapses, or in some people stop relapse altogether. For people with relapsing MS, several of these medication have been shown to alter the outcome for the better. Of course, these medications have both benefits and also risks that vary among the available agents.  Some of these “disease-modifying therapies” (DMTs) suppress the immune system, and that is of concern. Some may increase risk of developing cancer. But, these DMTs have revolutionized the lives of people with MS because they can delay or stop progressive disability accumulation.

What are currents advancements being made to increase early diagnosis and intervention?

For early diagnosis, one new diagnostic test relates to an imaging finding that is rare in diseases other than MS. With special MRI sequences (or protocols), brains of people being evaluated for MS can be examined for central veins in lesions.  These central veins are typical of MS white matter lesions, and can be seen now on MRI by combining T2-weighted images together with Susceptibility weighted imaging (SWI). If more than half of white matter lesions have a “central vein sign,” this greatly supports the diagnosis of MS.   As far as efforts at early intervention, accumulating evidence suggests it makes a positive difference. If the MS patient initiates and remains on one of the several disease-modifying treatments now available, it can have beneficial longterm effects.  Unfortunately, one type of MS that can be difficult to diagnose and is difficult to treat is primary progressive MS.  This is an uncommon form of MS in which the patient never has a relapse, but just steady downhill disability accumulation.  It usually affects walking most of all. There is one FDA approved drug for this now, but it  only slows progression by an average of about 25%, so we need better treatments. Considerable research is being done now to better understand what causes the progressive forms of MS (why is it progressive and why does it not respond better to the drugs we use for relapsing MS)?.

What are some recent developments or emerging therapies for the treatment of MS?

MS is mediated by abnormal immune system responses. Successful recent developments include the FDA approval of three B lymphocyte (B cell) depleting agents. These are all monoclonal antibody therapies that kill B cells in the blood. Amazingly, these agents can reduce MS relapses by about 90% or more in most people. Several new oral medications, called Bruton’s tyrosine kinase inhibitors, are being studied as well. These inhibit B cells and other immune system cells called myeloid cells.  As mentioned in the prior question, progressive MS, which involves more neurodegeneration than relapsing MS, has been difficult to effectively treat.  A number of studies are ongoing now, mostly in early stages, to target the neurodegenerative elements of MS. It is perhaps important to know that relapses and neurodegenerative aspects of MS often coexist in the same person.