We sincerely apologize, but you don’t have MS

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The rate of misdiagnosis of MS around the globe is roughly a quarter. We are so focused in making an early diagnosis in MS that before we know it, it’s a runaway train. Sometimes, even the best of us need to eat our words, and admit to having a made a mistake.

The diagnosis of MS is not easy; how many of you have googled non-specific symptoms and come up with MS as a potential cause? The McDonald criteria for the diagnosis of MS, has notably struggled to balance sensitivity with specificity over the years, but in 2016 introduced the idea of only having one T2 lesion in at least two of four locations on MRI (juxtacortical, periventricular, infratentorial and spinal cord) for dissemintation in space; a move that would clearly increase the rate of misdiagnosis. Nonetheless, it improves the rate of pick up by 72%, versus 60% and 47% rates from the 2005 and 2001 McDonald criteria, respectively.

Last week, a study of new referrals to two large academic centers (teaching hospitals) UCLA and Cedars-Sinai found that the rate of misdiagnosis was 19 and 17%, respectively. A majority of these misdiagnosis were made by a neurologist rather than a non-neurologist, simply because a neurologist is more likely to receive these referrals.

How do you decide what is not MS? The clinical presentation maybe atypical (for instance, a normal neurological exam) and the MRI head scan may have radiographic red flags, including normal head scans, pointing towards other diagnosis. The most common misdiagnosed group were headaches/migraines. A group that also receive the most MRI head scans.

The co-existance of other autoimmune disorders is also more likely to lead to misdiagnosis, indicating that they pose a challenge for clinicians (e.g. abnormal CSF findings, including OCBs) or unduly raise concern of MS.

This suggests that MS diagnosis may stem from misapplication of MS diagnostic criteria in patients for whom they were not intended” -Kaisey et al.

Having said all this, misdiagnosis of MS can result in considerable risk to the patient – 72% were prescribed a DMT, while 28% were exposed to risk of progressive multifocal leukoencephalopathy (PML) in this cohort; not to mention the psychological harm, and the financial burden.

ABSTRACT
Mult Scler Relat Disord. 2019 Feb 2;30:51-56
Incidence of multiple sclerosis misdiagnosis in referrals to two academic center
Kaisey M, Solomon AJ, Luu M, Giesser BS, Sicotte NL

Background: Multiple Sclerosis (MS) specialists routinely evaluate misdiagnosed patients, or patients incorrectly assigned a diagnosis of MS. Misdiagnosis has significant implications for patient morbidity and healthcare costs, yet its contemporary incidence is unknown. We examined the incidence of MS misdiagnosis in new patients referred to two academic MS referral centers, their most common alternate diagnoses, and factors associated with misdiagnosis.

Methods: Demographic data, comorbidities, neurological examination findings, radiographic and laboratory results, a determination of 2010 McDonald Criteria fulfillment, and final diagnoses were collected from all new patient evaluations completed at the Cedars-Sinai Medical Center and the University of California, Los Angeles MS clinics over twelve months.

Results: Of the 241 new patients referred with an established diagnosis of MS, 17% at Cedars-Sinai and 19% at UCLA were identified as having been misdiagnosed. The most common alternative diagnoses were migraine (16%), radiologically isolated syndrome (9%), spondylopathy (7%), and neuropathy (7%). Clinical syndromes and radiographic findings atypical for MS were both associated with misdiagnosis. The misdiagnosed group received approximately 110 patient-years of unnecessary MS disease modifying therapy.

Conclusion: MS misdiagnosis is common; in our combined cohort, almost 1 in 5 patients who carried an established diagnosis of MS did not fulfill contemporary McDonald Criteria and had a more likely alternate diagnosis.

About the author

Neuro Doc Gnanapavan

14 comments

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  • It took me literally decades to get a diagnosis of MS after the symptoms started. It’s so weird to me, that you perceive a rush to diagnose. The NHS wouldn’t believe I was sick, said I was mentally ill and misdiagnosed me with Chronic Fatigue Syndrome. Wouldn’t let me see a neurologist or have any neurological tests.

    Once I gave up on the NHS, diagnosed myself, and went private to see a neurologist, my MS was diagnosed in a couple of months. The MRI scan showed I have a lot of active brain lesions and ‘significant cerebral atrophy’, the evoked potential tests showed my eyes are permanently damaged, and the lumber puncture showed Oligoclonal Bands.

    So I’ve been severely disabled by undiagnosed and untreated MS for decades.

    It’s a fascinating question: why was my experience so different than what you’re used to? Is it unusual, or do you just never hear of people like me because they die undiagnosed?

    I think class has a lot to do with it, economic status, and level of education. And the fact that I was also autistic (also undiagnosed till I got myself a diagnosis). But what they did to me wasn’t wrong because I’m not mentally ill. It would be equally bad if I were. Anyone can get MS.

    It’s hard for me to imagine a ‘rush to diagnose MS.’ I would have died without ever being diagnosed by the NHS.

    I guess it comes down to the level of importance a person is judged to have. So some people will be given every test that exists, and in the end that may not find anything. I was extremely easy to diagnose once I went private and got the tests, but the NHS, and really society, had judged me to have no importance and thrown me away.

    I’m a member of the Labour party, and in internet terms a Social Justice Warrior. So I don’t want to have to say these things about the NHS. But they destroyed my whole life.

    I now have the official diagnoses of the things I diagnosed myself with: I’m autistic with non-24-hour sleep-wake disorder and MS. It’s a Pyrrhic victory.

    • I’m sorry to hear about the delay in your diagnosis, that type of delay is most definitely what we all want to avoid. As a trainee neurologist I did see this, but thankfully it is a very rare occurrence in my current practice. Working in London, you might say, that the demographics that I see may skew my perspective, but our catchment area is also one of the most deprived parts of London; where language and low income are an issue. So not at all certain about this, as I only have my anecdotes to go on.

      But the opposite also happens, and this post is also to raise awareness of the other side of the coin. Most misdiagnosis happen in first presentation cases who are lumped into the genuine cases. We don’t talk about these at all. In my experience I have found this to be very damaging to the patient (in particular those going on for 20y), and it’s something that we should also work towards to avoid.

    • Yes, this is often raised when natural history data (i.e. those not on treatment) are presented to a wider audience, as it very much skews the extremes of the data points. The other is the clinical trials, which is more concerning!

      • You could use this in a positive spin:
        – natural history data: such a large part of misdiagnosed patients are for sure in the “benign” part of MS spectrum: so you can say that things are even worse for “real” MS patients and hence even more importantly to start a treatment as soon as possible as the probability of having benign MS is actually much lower than data shows. This is actually an argument pro early treatment, for pwMS at least. (I know that this goes both ways: one could argue that maybe the diagnosis is wrong in the first place so you should wait. But if you have an accurate diagnosis, just don’t wait to see if you’re benign as you are not.)
        – in clinical trials: randomization and large number of patients ensures that this is not a huge problem in large trials. Yes, small trials are different and this could heavily skew results. But we all interpret small trials with a grain of salt anyway, so nothing is lost here.

  • I’m sure I’ve read on a UK MS forum people (more than one person) have stated they have a diagnosis of PPMS by a neurologist and have a clear MRI but are disabled.
    I guess if there is no DMT available for PPMS on the NHS then that diagnosis of PPMS helps the patient in other ways, such as access to ESA, PIP, housing etc. Also it gives some reassurance and clarity to the patient, instead of being in limbo.

    • I’ve heard an alternative diagnosis is FND: Functional Neurological Disorder, if MS is not diagnosed.
      Is this a default diagnosis? When a patient has neurological symptoms such as weakness in limbs, shaking, fatigue and numbness but the MRI is clear.

      • Functional neurological disorder, in my opinion shouldn’t be a default diagnosis when everything is normal. If my opinion (and I stress that it’s my opinion/assessment of the presentation) that there isn’t a neurological disorder in the individual, I state it as such. I do accept that we may not have the knowledge currently to be able to diagnose that individual, but that is an acceptance of our current limitations. FND unwittingly may include people with genuine problems who then are not looked at again because they’re not believed to have a neurological disorder in the true sense. I leave that work to my colleagues who specialize in managing FND/somatoform disorders.

        • Its seems that a fairly large amount of MS diagnosed people are now being told its not MS but FND. The problem with this is, its a condition that lacks any evidence and presently sits in a scientific void.

          It seems to me that Governments around the globe are endorsing lies that are designed to throw patients on the scrapheap with little to no further cost to the NHS/medical fraternity.

          Neurologists must also keep in mind that many conditions can appear to be neurological whilst not being neurological. I for example was diagnosed with FND. The neurologists never considered my condition could fit outside of their own learnings. I in fact had an aggressive form of NHL but my symptoms had manifested in such a way that neurology seemed the only way to find answers. As a neurologist, please consider this before abandoning a patient with MUS.

    • You raise an interesting conundrum, which is if treatments are available for PPMS (which there are) then would you not want to be absolutely certain on the diagnosis?

      A completely normal MRI scan including a spinal cord study is unusual, and even more unusual is when you have normal VEPs and OCB results. I’m not saying that these individuals do not exist, as I know of a few, and disease of any kind is a dynamic one, so in those with sufficient suspicion the investigations should be repeated.

      I agree, the financial aspects of the diagnosis is also an important distinction to make.

  • Approximately how long does it take to get an accurate diagnosis of MS, if a patient was admitted to your hospital, that is a specialist centre?

    • Hi what if you are given an fnd diagnosis but know you have lesions in your brain as mri confirm these..t2 hyperintenseities .should it be ruled out without further testing or an mri without contrast..vascular lesions can also be mistaken..I’m just wondering kind regards ellie

  • Forty years of ms and my heart is bursting with joy over my years long remission. The neurologist calls me his ‘lucky’ man. I rejoice in it.
    Aside from several cognitive issues, I am fully functional. Neurologist says I can expect the next five years to be like the last five. I do whatever I can to contribute to my well being, Exercise is endlessly beneficial, diet too makes a big difference. Turning 70, I continue through my own personal rennesance of improved health. It’s in complete contrast to the first 20 years, punctuated by ms mayhem, wrot by this totally unpredictable, devastating disease.

    • My foot sliding off the brake pedal was the first clue I was trapped in the grips of an all consuming monster.
    • vertigo gave me that just steped off a roller coaster disorientation, 24/7.
    • My hand was welded to a cane for years.
    • Parts of my body would turn numb
    • walking became lurching in a number of directions
    • Neuralgia turned my skin ultrasensitive
    • A single prolonged episode of of excruciating pain, held my life hostage for days
    • buttoning my shirt became problematic, as were any one of the plethora of tasks requiring fine motor skills, tieing shoes, note taking etc.
    • it smeared my language (it still does today)
    • it stole my sense of taste
    • bizarre electrical sensations pulsed through my spine,
    • muscle spasms created sudden uncontroled movement,
    • vision was compromised ,
    • collapsing repeatedly, required hospitalization and intense therapy

    Steroids, specifically methylprednisolone , got me back on my feet repeatedly. It allowed me to hang on to my dream job for a while longer,
    Overwhelmed by a phalanx of debilitating and mystifying symptoms the Dr. placed me on disability at age 43. The monster had consumed my career.

    Years later a rheumatologist ordered a treatment with immune gamma globulin (IgG). The day and a half infusion proved a turning point. The first 20 years were riddled with exasorbations and deteriorating health. The last 20 were filled with a kind of stability, allowing me to travel and engage in activities meant to make me stronger. When the neurologist called me his lucky man, I’ve known for years just how much good fortune landed on my door step and I’m turned inside out with appreciation!

    I wish you all the best of good luck.
    David Kirschner dkirschner@accesscomm.ca

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