Are You Sure It’s MS ?… Do You Know How Often is Multiple Sclerosis Misdiagnosed ?

• Top 7 Reasons To Challenge The Diagnosis of MS and How Often is Multiple Sclerosis Misdiagnosed

• Neurological disorders like MS. Other conditions That Mimic MS

• What Causes Brain Lesions Besides MS?

• What Can You Do To Get The Right Diagnosis ?

I. Top 7 Reasons To Challenge The Diagnosis of MS and How Often is Multiple Sclerosis Misdiagnosed

I could write 100 blog posts asking the question- are you sure it is MS and not “X” disease?

I have several good reasons to challenge the diagnosis of MS, and so should you.

1. MS is a serious diagnosis, not a cold or flu. You have the right to know the right diagnosis and rule out other conditions

2. MS is one of the most frequently misdiagnosed condition. There about 100 conditions that mimic MS [1],  and we have no accurate test to properly get the diagnosis. How often is multiple sclerosis misdiagnosed ? Rates of MS misdiagnosis vary with the study- from 6% up to 35%. Yes, up  to 35% – roughly 1 in 3 cases could be another condition, not MS ! Did you know that ?

3. Doctors are very much aware about  how often is multiple sclerosis misdiagnosed. A new study (feb 2018) supports the overdiagnosis of MS [2]. Unfortunately, a person suspected with MS is rarely referred to another neurologist for a second opinion or to other specialists to rule out other conditions. Misdiagnosis (of MS) is, “under-recognized, under-appreciated, and under-studied,” according to top experts [3]. There is a new McDonald Criteria for MS diagnosis that was published in december 2017, which could help  increase the accuracy of the diagnosis [4].

4. How often is multiple sclerosis misdiagnosed is only one problem. The next question is : for how long is a person  using the wrong treatment as a result of wrong diagnosis? According to recent data, 72% of the misdiagnosed patients took medication to treat a disease they didn’t have, and 33 % had remained misdiagnosed for 10+ years before being informed them of an incorrect misdiagnosis [5]

5. Taking MS drugs while having another disease (not MS) can significantly aggravate that condition or cause a second autoimmune disease. Just an example: taking interferon beta (first line therapy for MS) can a) create another autoimmune disease and/or b) aggravate an existing autoimmune condition  that mimics MS like lupus or Hashimoto [6].

6. There is a  new trend- to treat everyone with MS as early as possible. Even in those cases when MS was not confirmed, “in patients who have not yet developed clinically definite MS ”. This idea is based on some research showing that starting a treatment asap would stop the progression of the disease.  The problem: starting early the treatment would not allow enough tests and rule out other diseases that mimic MS. So one could easily end up in the 72% of those misdiagnosed cases of MS, taking meds for a disease that does not have. In my opinion, early treatment should be reserved for severe cases that had been carefully investigated and confirmed to be MS. A side note regarding the research papers that claim significant benefits from starting an early treatment. … if you come across a study that is not associated (neither the study nor the researchers) with with a drug company, please do share it with me. 

       The old approach was “watch and wait”. For a long time, the treatment for MS would be delayed           for several years until the diagnosis  would be confirmed with a new episode (relapse), new                     symptoms, or more MRI lesions. In a 2006 research paper,Dr. S.J. Pittock, MD and colleagues               from Mayo Clinic support the idea of delaying the treatment for the following reasons:

• If left untreated, MS will often run a favorable course. They noted it is difficult to differentiate a favorable course from treatment success if individuals are following a treatment for a extended period.

• The current drugs approved for MS treatment are only partially effective short term, and their long term efficacy (to prevent disability) has not been proven

• Major cons of MS treatments: very expensive, serious side effects, and neutralizing antibodies (immune system proteins that can interfere with the effectiveness of interferon)

• Some people will have troubles committing to use injectable medication long term  

• The researchers of this study recommend monitoring individuals with MS regularly with consultations and MRIs and find those who progress and require treatment [7].

 

7. I think you should be aware of this additional reason to question the diagnosis of MS 

• The results of a  survey focused on patients misdiagnosed with MS was published in 2012 in the journal “Neurology” and 242  individual neurologists in US and Canada were invited to  participate  in this survey. The goal of the study: to describe the clinical characteristics of encounters with patients misdiagnosed with MS. Only half (50.4%) of them decided to participate in this survey, and therefore bring their contribution to better understand how and why MS is  misdiagnosed. The majority of doctors (>90%) reported the  use of disease-modifying therapy in  some of these misdiagnosed cases of MS.

• The majority of doctors admitted having patients who received the diagnosis of MS, yet they  strongly felt did not have MS…. And 14%  percent of doctors reported that they did not always  inform such patients of their opinion that they did not have MS. In  these cases, the doctors had chosen not to inform such patients that the misdiagnosis of MS is strongly suspected [8]. This is  unacceptable in my opinion. 

II. Diseases that mimic MS. Neurological disorders like MS and other conditions that share similar symptoms with MS. What causes brain lesions besides MS?

What are the  neurological disorders like ms? What other conditions have symptoms that can mimic MS?

I would start the list of these conditions that are more to be misdiagnosed with MS

• Migraines- It may be a surprise to learn that migraines are the most commonly neurological disorder like ms (in terms of being misdiagnosed). A 2016 study reveals that a migraine was the most common correct diagnosis (in 22%) in the participants of the study who were “definitely” or “probably” misdiagnosed with MS.

• Fibromyalgia came in the second place in the same study as being misdiagnosed with MS (occurring in 15% of the participants)[9], although in another study fibromyalgia was reported more frequently (31%) [10].

• Neuromyelitis optica spectrum disorder (NMOSD) -has relapsing remitting pattern, is autoimmune and affects the optical nerve and spinal cord, causing demyelination and vision loss.

• Lupus is an autoimmune condition that causes similar symptoms with MS -ie fatigue, pain headaches.

• Sarcoidosis is another autoimmune condition that often starts in the lungs and lymph nodes, but can affect the brain and cause vision loss, depression, joint pain, numbness and tingling, and bladder changes.

• Vitamin B12 shares many similarities with MS — for example numbness and tingling, muscle weakness, bladder symptoms, fatigue and vision loss. Less often, vitamin E and copper deficiencies can also mimic MS

• Lyme disease (neurological complications of Lyme) — many similarities with MS, should be ruled out at the first suspicion of MS, especially if you live or traveled to an area where ticks carrying Lyme are common.

• Celiac disease and Gluten Sensitivity — many similar symptoms with MS — also should be ruled out in everyone who is suspected with MS (or has the diagnosis “confirmed”).

• Conversion, psychogenic and psychiatric disorders had also been misdiagnosed with MS. Conversion and psychogenic disorders develop when mental/emotional stress converts into physical symptoms like tingling and numbness, vision problems or paralysis. In fact, a 2012 study found that psychiatric conditions are even more likely than migraines to be misdiagnosed with MS (when compared with migraines).

• Various conditions causing visual loss. Examples would be inflammatory that compress the optic nerve : cysts, aneurysms, and tumors; toxins (like methanol in fuel, some medication, excess consumption of alcohol), acute angle closure glaucoma or thyroid conditions.

 

• Besides migraines and NMO, other neurological disorders like ms (associated with brain degeneration as well) include chronic inflammatory demyelinating polyneuropathy, spinocerebellar ataxia, amyotrophic lateral sclerosis and primary lateral sclerosis and olivopontocerebellar degeneration, myasthenia gravis and amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease).

• Besides lupus, other autoimmune conditions seen by rheumatologists include : Sjogren’s syndrome and polyarteritis nodosa.

• Besides Lyme disease, other infectious diseases that mimic MS are: neurosyphilis, toxoplasmosis, human T-lymphotropic virus 1 myelopathy, progressive multifocal leukoencephalopathy, SSPE, HIV, brucellosis, infectious encephalitis.

• Environmental toxins, drugs like cyclosporin and toxins (ie toluene) can also mimic MS.

• Wifi and other sources of “dirty” electricity; more details here

• Cancers such as metastasis to brain, glioma, lymphoma (primary CNS and intravascular) share some symptoms with MS.

To get a more complete list of conditions that can be misdiagnosed as MS click here and review Box # 3

Also consider this link from University of Maryland Medical Center, which lists conditions with similar symptoms as MS (based on specific symptoms).

III. What causes brain lesions besides MS?

This is very good question, because many will think of MS when lesions are seen on MRI.  In fact, one of the biggest reason why MS is so often misdiagnosed is because doctors rely too much on MRI tests. Yet, there are so many other diseases that cause brain lesions besides MS.

• Let’s start with some very well-known conditions: Crohn’s disease, ulcerative colitis [11], celiac disease [12] and migraines [13], [14] had been associated with loss of myelin in the brain.

• Demyelinating diseases due to inflammation: MS and variants of MS (Marburg-type multiple sclerosis, Baló’s sclerosis), neuromyelitis optica (NMO), acute-disseminated encephalomyelitis (ADEM) and acute hemorrhagic leucoencephalitis (AHL).

• Demyelinating diseases due to viral infections: progressive multifocal leucoencephalopathy (PML) caused by JC virus (this is a serious problem associated with some MS drugs, as well).

• HIV, SSPE (caused by measles virus) and varicella zoster in people with HIV can also cause demyelination of the brain.

• Acquired metabolic demyelination: central pontine myelinolysis (CPM), extrapontine myelinolysis (EPM), chronic alcoholism and malnourishment (Marchiafava–Bignami disease).

• Demyelination caused by hypoxia and/or ischemia: cerebrovascular diseases, cardiac arrest, exposure to carbon monoxide or toxins like cyanide or hydrogen sulphide

• Compression induced demyelination: trigeminal neuralgia.

• Demyelination associated with cancer: brain tumors [15].

As you can see, there are many reasons conditions that cause brain lesions besides MS. However, the way these lesions look on MRIs would provide clues about the possible diagnosis. Of course, clinical evaluations and further tests would further help to differentiate them from MS.

Important to know: Be aware that MS and another condition (migraine, lupus, Hashimoto, celiac disease) can coexist. It is quite common to see a person developing more than one autoimmune disease. This means that testing positive for celiac disease for example- would not rule out the possibility of having MS as well. 

IV. How To increase Your Chances To Get the Right Diagnosis  

A misdiagnosis of MS means that someone is suffering from a different condition which is undiagnosed and untreated. It means taking the wrong medication means exposing a person to unnecessary risk, potentially serious adverse reactions (like PML) and even death. The high cost of MS drugs, the tests and consultations  could be avoided if the correct diagnosis would be made. Avoiding the emotional stress that derives from this misdiagnosis is priceless.

Here are a few things you can do to get the right diagnosis:  

1. Get to know as much as you can about your body, your symptoms, MS and other conditions that mimic MS. Read and learn as much as you can.

2. Switch from the “passive” type of patient to taking an active control of your health. Talk to your doctor about your concerns and exploring an alternate diagnosis.

3. Ask for a second, even a third opinion from a neurologist. If one in three cases of MS can be misdiagnosed, you have all the rights and reasons to consult different specialists.

4. Many conditions that are not neurological in nature can mimic MS- you should get a referral to a rheumatologist (to rule out lupus, Sjogren, etc), endocrinologist, infectious disease specialist. Ask your family physician for some tests* prior to your appointments to the specialists, as they can be very helpful.

5. Make sure you get the recommended blood tests, MRIs, evoked potential testing, electroencephalography, spinal tap.

•   *Ask for blood work to help exclude conditions such as the following: collagen vascular disease and other rheumatologic condition, infections (ie, Lyme disease, syphilis), endocrine issues (eg, thyroid disease); vitamin B 12 deficiency, sarcoidosis, vasculitis. Neuromyelitis optica can be confirmed by the presence of serum antibodies against aquaporin 4. Consider advanced testing (i.e. Cyrex Labs).

6. It’s worth getting your genetic test to get more info. While you don’t have to express your bad genes, it’s good to know if you have an increased risk of certain conditions. You will need to run the raw data from “23 and me” test through a software to get more details. 

7. I think the “watch and wait” approach is better than treating early, but isn’t the best solution either. Once MS is suspected, further investigations are needed to confirm the diagnosis.

       8.  While the treatment with drugs should be delayed until MS is confirmed, you should start                  improving your health. ASAP. Diet,  exercise, some basic supplements, improving sleep and stress        management should be the first line therapy for everyone.

      9. If you decide to go ahead and start meds without having a confirmation of MS diagnosis, be                aware of both the benefits and risks of them. Besides talking to your doctor, click here. for a quick        and very basic comparison between different drugs available.

    

      

 

Mother diagnosed with MS and facing life in a wheelchair is cured – after she discovered her symptoms were due to a tick bite- Daily Mail

Migraine, Fibromyalgia Frequently Misdiagnosed as MS- Medscape