For a long time, Multiple Sclerosis (MS) has been diagnosed by exclusion of other possible diseases. With the adoption of new diagnostic criteria, such as the MacDonald 2010 Criteria, most major MS centers around the country have been able to diagnose MS with more certainty.
Yet, even with the improvement in MS diagnosis, each year I still see 8-10 patients who have been diagnosed with MS and come to me looking for second or “n-th” opinions. They are already on MS medications, but don’t really have MS. They are experiencing overwhelming fatigue and hand numbness, but it actually turns out to be sleep apnea and carpal tunnel syndrome or a pinched nerve in the neck. They have a few “spots” on their brain MRI, but they aren’t actually spots typical of MS.
One reason for this misdiagnosis is the many other diseases that affect people in the same age group with symptoms that overlap with those of MS. But, despite many of the symptoms being the same, these mimicking diseases don’t have the typical brain and spinal cord MRI findings of Multiple Sclerosis. Therefore, if anything is amiss about the symptoms or signs you are experiencing, and aren’t consistent with the imaging findings typical of Multiple Sclerosis, then other diseases need to be looked for.
The Diseases that Mimic Multiple Sclerosis (MS)
1. Hypermobility Syndrome
Benign Hypermobility Syndrome affects perhaps 5% of the population and is caused by joints that are “overly stretchy” or more flexible than normal. It is associated with symptoms such as autoimmune disease, headache, joint pain, fatigue/sleep problems, dysautonomia, and cardiac abnormalities. Through recent research, we have found that patients with hypermobility syndromes share similar symptoms to MS Patients. After comparing MRIs of patients with hypermobility to those of MS patients, we found White Matter Lesions in similar locations of both. Since both the MRI findings and symptoms overlap in MS and Hypermobility Syndromes, Hypermobility Syndromes can be mistaken for MS and should be considered in the differential diagnosis.
Lupus and MS share many similarities. Both are diseases of the immune system and affect women more than men. They share several symptoms such as fatigue, pain, and headaches. Lupus stands out from MS with it’s most common symptom— a rash on the face that resembles a butterfly. However, not everyone suffering from Lupus experiences the rash immediately — resulting in a disease that sometimes starts out very similarly to MS. And in very rare cases, a person can have both diseases. Lupus is usually ruled out by blood tests.
Sarcoidosis is an inflammatory disease with an unknown cause. It usually starts in the lungs, and the lymph nodes that drain the lungs become enlarged. But sarcoid can affect the brain, resulting in several neurological symptoms similar to MS. These include vision loss, depression, tender joints, numbness, and bladder changes. Just like MS, Sarcoidosis affects women more than men and is found most frequently in people 20 – 40 years old. Sarcoid is usually ruled out by biopsy or taking a tissue sample.
4. Vitamin B12 deficiency
Vitamin B12 is responsible for a lot of important functions for your body, such as making your red blood cells and your DNA, and helping make neurotransmitters in your brain. When your body doesn’t get enough Vitamin B12, serious conditions such as vision loss, fatigue and muscle weakness, lack of bladder control, and depression can occur. Vitamin B12 deficiency is ruled out through a blood test.
5. Central Serous Chorioretinopathy
Central Serous Chorioretinopathy is an eye disease where fluid is leaked under the retina and causes loss of vision in one eye. Even if we think a patient has MS, we always perform Optical Coherence Tomography on patients with sudden or pretty rapid visual loss. This helps to see if there is any swelling in the retina and if Central Serious Chorioretinopathy is present.
6. Neuromyelitis Optica (NMO)
Also known as Devic’s disease, NMO is an autoimmune disorder affecting the optic nerves and the spinal cord. We used to think NMO was just a special type of MS, but now we know they’re different and we treat them differently. NMO parallels MS in that it can be a relapsing-remitting disease. Each relapse of NMO further damages the optic nerves and further contributes to the patient’s growing disability.
Additionally, NMO and MS share many symptoms – vision loss, weakness and fatigue, loss of bladder control, and numbness and tingling. NMO affects people of African-American and Asian descent disproportionally as well as older people. The drugs used to treat MS can be harmful to a person with NMO and NMO left undiagnosed can have detrimental effects. Thus, it’s important to rule out NMO when diagnosing MS. This is usually done by special blood testing for anti-aquaporin 4 antibodies, and by the pattern on MRI of spinal cord involvement.
A major symptom of MS is the loss of vision. However, vision loss is also frequently caused by inflammation that affects the optic nerves. Luckily, most of these types of inflammation can be ruled out through various tests. Cysts, aneurysms, and various types of tumors can press on the optic nerves and cause visual loss. These would usually be detected on an MRI, or a special type of MRI called an “MRA,” which shows the arteries in the brain.
Inflammation of the nerves or of the blood vessels supplying the optic nerves with blood can occur too, and these have their separate types of testing. Your MS doctor should know about these.
8. Vision Loss Caused by Other Factors
We know MS can cause vision loss, as can inflammation. But, your problems seeing could be attributed to a variety of other issues. Various types of toxins, like methanol (in fuel), several drugs, tobacco use, and excessive alcohol consumption can also result in visual loss. Acute angle-closure glaucoma, or increased intraocular pressure, can lead to loss of vision and pain because it prevents fluid from getting out of one of the chambers of the eye.
Finally, thyroid disease and other intra-orbital diseases cause an impairment in vision.
As you can see, there are a number of autoimmune and inflammatory diseases and disorders whose symptoms overlap with those of MS. This is one of the factors that makes diagnosing MS so difficult. There is no one test that will both diagnose MS and rule out all the other possibilities.
Because of that, when getting tested for MS, it’s safer to conduct all the tests above necessary to make sure other diseases are not present. Ruling out these mimicking diseases will lead to a more accurate diagnosis and more effective treatment plan. And it’s better to be evaluated in an MS center, where research on MS and testing of new drugs for MS is being carried out. This generally means that center is up to date in the diagnostic criteria for MS.
Experiencing symptoms of MS? If you live in or near Kansas City, our specialists at Rowe Neurology Institute (RNI) can help. We specialize in accurately diagnosing and monitoring Multiple Sclerosis. And if your symptoms are found to be MS, we will provide you the close, coordinated care that is crucial for your health and optimal quality of life.