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Thursday

 

Is MS the Correct Diagnosis?






Image Source: STUDENTSUPERPOWERS

By Laura Kolaczkowski

Do you ever wonder if your MS diagnosis is right? At times I do, and it seems I am not alone because that was a prime topic at the recent American Academy of Neurology (AAN) annual meeting in Vancouver. The question of how common is misdiagnosis of MS was tackled by Andrew J. Solomon, MD, Assistant Professor in the Department of Neurological Sciences at the University of Vermont in Burlington.

Dr. Solomon kindly shared his presentation slides with me and assisted with my preparation for this article. The study, The Spectrum of Multiple Sclerosis Misdiagnosis in the Era of McDonald Criteria: A Multicenter Study, is currently under peer review for publication and hopefully we will see the entire results in print in about six months. In the meantime, I want to review his AAN Plenary talk and try to learn more.

Purpose of this study:
In our correspondence, Dr Solomon writes “The aim was to see if we could collect data on a large group of patients recently determined to have been misdiagnosed with MS over a short time, determine what the correct diagnoses were, understand risks of misdiagnosis, and to apply current diagnostic criteria to potentially help understand causes of misdiagnosis.” In his talk he told the neurologists present “We should be thinking, ‘Is this really MS?’ each time we see a new patient rather than simply accepting that diagnosis.”

Study Background:
The study team used the help of neurologists at the MS centers of the University of Vermont, Oregon Health & Science University, Washington University, and Mayo Clinic, and over a period of 13 months they identified 110 people who had been misdiagnosed with MS and evaluation they were defined with either  ‘definite misdiagnosis’ or ‘probable misdiagnosis.’ The total number of new patients seen during this same time period is unknown so unfortunately it is impossible to form a view of the prevalence of this problem of misdiagnosis.

This study builds on a previous one from 2012, also led by Dr Solomon, where 122 neurologists were surveyed and approximately 95% of them reported they had found people misdiagnosed with MS. Dr. Solomon has published a number of journal articles on the question of misdiagnosis and the differential diagnosis of MS.1-3

The 23 doctors involved in this study at the four MS clinics were seeing the patients for the first time and those patients were already diagnosed with MS by another physician. These  new patients were not assigned to these doctors because there was a question of their diagnosis but rather they came for an assortment of other reasons such as moving, looking for a new doctor, change of payer coverage, etc., and there were enough ‘red flags’ to make the clinician take a closer look at the original MS diagnosis.

Diagnosing MS:
Most of us already know how complex a diagnosis of MS might be, especially because there are so many other diseases that can also look and act like multiple sclerosis.  The other possibilities – the differential diagnosis – are numerous (over 50 possibilities) so it should come as no surprise that there might be errors in the diagnosis.

The Macdonald Criteria outlines the accepted guidelines for diagnosing multiple sclerosis and it has been updated a number of times to reflect changes in diagnostic tools, particularly the use of MRI data. Generally the Macdonald Criteria requires evidence of MS through dissemination in time and space – in plain language this means there must be signs of MS damage/activity that has occurred at two or more separate times and in two or more places in the central nervous system, and eliminating the possibility that it could be something other than MS.

Misdiagnosis Findings:
From their group of 110, 33% of the patients had lived with a misdiagnosis of MS for more than 10 years, with an additional 30% in the 3-9 year range. That is a lot of years living with the cloud of MS hanging over you, and for this group they found it was also a lot of years taking a disease modifying treatment (DMT) for a disease they didn’t have. Almost 70% had been on a DMT and a third had been on more than one DMT, and over 30% had been on a DMT for more than 3 years. That’s a lot of injections, pills and infusions for a disease they did not have, and a lot of unnecessary side effects and financial costs.

Maybe even more troubling is they found 4 patients who had participated in clinical trials for MS drugs who had a definite misdiagnosis. Not only were these patients on a drug for a disease they did not have, they were also used in  clinical trial studies to help prove the effectiveness of DMTs for all of us to possibly use.

Where did these misdiagnosis’ come from? I would have thought that a majority of the misdiagnosed had come from doctors other than neurologists, but surprisingly, a large percentage of the people with wrong diagnosis had been seen by neurologists who specialize in the treatment of MS (24%) and other neurologists (32%).

What was the real diagnosis for these people? The doctors found almost 2/3 of the misdiagnosed could be linked to five other disorders –

  • Migraine alone, or in combination with other diagnoses (22%)
  • Fibromyalgia (15%)
  • Nonspecific or non-localizing neurological symptoms
  • w/abnormal MRI (12%)
  • Conversion or psychogenic disorder (11%)
  • Neuromyelitis optica spectrum disorder (6%)

There is a lengthy list of other disorders (remember differential diagnosis) for the remainder, including: stroke, mitochondrial disorder, vascular change, neurosarcodoisis, neuropathy, viral meningoencephalitis, and alcohol abuse.

The problem of misdiagnoses appears rooted in errors of applying the Macdonald Criteria according to Dr. Solomon’s study. Almost 65% were a case of not interpreting the demyelinating attack criteria correctly; about half of the misdiagnosis had problems with the historical episode not clearly being disseminated in time. There was also the general problem of accepting a neurological deficiency on exam that did not have evidence via lesions (MRI), which led to about a 50% error rate. In some cases, the MRI showed lesions but they weren’t in the typical juxtacortical or periventricular location.

Predictably, being wrongly diagnosed with MS led about 30% of the patients to have some other morbidity (medical problem) that could be directly linked to their misdiagnosis. These morbidities included not getting the correct treatment for their disease, and taking the DMTS when not needed.

Conclusion:
The results of this study are unsettling because I personally understand the social, economic and emotional impact of having a diagnosis of a chronic disease like MS. To know the problem of misdiagnosis is not just isolated incidences and there are more than just an occasional person out there thinking they have MS when they really don’t, is troubling and I hope there will be further study of this problem. The rush to diagnosis by the doctor or the push from the patient to have their illness named must be slowed until all of the pieces fit according to the Macdonald Criteria. To do otherwise can do greater harm than good. For anyone reading this who is not yet diagnosed but believes they have MS – I hope your medical team will be thorough before giving any diagnosis and I hope you will learn more about the diagnosis process.

Story Source: The above story is based on materials provided by MULTIPLESCLEROSIS.NET
Note: Materials may be edited for content and length

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