Misdiagnosis of MS
Fred D. Lublin, M.D., was a keynote speaker at the 2019 Consortium of MS Centers Annual meeting. His talk, “Use and abuse of the McDonald criteria’ covered the pitfalls of diagnosing multiple sclerosis. Dr. Lublin practices at the Corinne Goldsmith Dickinson Center for Multiple Sclerosis, Mount Sinai School of Medicine, New York, and is a widely recognized and respected MS neurologist.
Prior to his talk I had heard and read of the misdiagnosis rate of MS being 1 out of 5 people, but it wasn’t until I saw his slides projected on the big screen to the audience did this number really sink in with me. Approximately twenty percent of people with the diagnosis of MS are likely ill from something else according to recent studies.
A rush to make a diagnosis
This significant number of people misdiagnosed with MS, according to Dr. Lublin, can be attributed to the rush to make a diagnosis faster. He talked about how it used to take a longer period of time to reach a diagnosis of MS, and people were often left waiting for answers for years. With the availability of MRIs to most everyone, and the McDonald criteria to supplement physicians’ knowledge of MS, that wait time has been decreased, but this rush to diagnosis can also leave more room for error, according to Dr. Lublin.
If it's not multiple sclerosis, what is it?
Dr. Lublin talked about the other demyelinating diseases which might look like MS, most of which we may have never heard of before. These include Marburg’s disease, Tumefactive MS, Balo’s concentric sclerosis, Schilder’s disease, acute disseminated encephalomyelitis and neuromyelitis optica spectrum disorders.
He also presented an extensive differential diagnosis conditions list. Differential diagnosis can be those diseases which have symptoms that are similar to MS symptoms, such as numbness, tingling, and vertigo. He broke these into the categories of vascular conditions, inflammatory/immune disorders, infectious disease, genetic/degenerative conditions, metabolic imbalances, and neoplastic conditions. The National MS Society has a comprehensive list of what fits each of these categories as a differential diagnosis.
The use of MRIs
Compounding the problem of misdiagnosis is the use of MRIs to support an MS diagnosis. Dr. Lublin shared a number of publications that cover this problem of misdiagnosis, such as The contemporary spectrum of multiple sclerosis misdiagnosis, which is available online to read. You might wonder who is doing this and be surprised like I was that studies show about 51% of the misdiagnosed cases found were initially diagnosed by a neurologist. Dr. Lublin suggested to the audience that there should be close attention paid to red flags, primarily the misinterpretation of the McDonald criteria, labeling MRI spots as MS when they are really something else, and a normal cerebral spinal fluid (CSF) test.
If you want to learn more about diagnosing MS, here are links to two summaries that cover the MRI and the McDonald criteria. Consortium of MS Centers MRI Protocol and Clinical Guidelines for the Diagnosis and Follow-up of MS, 2018 Revision, provides a summary of the MRI processes that should be used during those tests. Updated McDonald criteria likely to speed MS diagnosis and reduce misdiagnosis is a publication of NMSS focusing on the McDonald criteria and adds more information.
Getting another opinion
If you find yourself wondering if you might have been misdiagnosed, there is nothing wrong with getting a second opinion (or even a third) from a different neurologist. The potential harms of being misdiagnosed with MS are extensive, including the financial cost of medical treatment, exposure to MS disease-modifying therapy drugs, and the social and employment impact of a chronic disease. We all should have the right diagnosis and the correct treatment.
Wishing you well,
NMOSD and NMO can often be misdiagnosed as MS. Have you or anyone else you know been diagnosed with these conditions?
Does your employer provide workplace accommodations due to your MS?