What is Tumefactive MS?

Tumefactive multiple sclerosis is a very rare form of multiple sclerosis that is characterized by symptoms that are similar to having a brain tumor. As a result, the symptoms of tumefactive MS don’t match the most common symptoms experienced by people with other types of MS.1 It can therefore be more difficult to diagnose.2

What is multiple sclerosis?

Multiple sclerosis is a disease that affects the central nervous system, which includes the brain, spinal cord, and optic nerves (the main nerves that connect the eyes to the brain). In MS, the immune system attacks the fatty coating that covers the nerve fibers as well as the nerves themselves. This disrupts the messages that travel between the brain and the body and causes a variety of physical problems, from trouble walking to vision problems.3

Symptoms of MS

Common symptoms of MS include:4

Symptoms of tumefactive MS

Common symptoms of tumefactive MS include:1

How is tumefactive MS diagnosed?

Diagnosing tumefactive MS can be challenging, because the symptoms are similar to brain tumors and other nerve or brain diseases. It is a very rare form of MS, and nobody understands its exact cause.

The first step in getting a diagnosis of tumefactive MS is a complete physical exam to assess the functioning of your central nervous system. Your healthcare provider will also ask about your family and medical history. This information is important because researchers believe there may be strong genetic risk factors for multiple sclerosis.1

Another important diagnostic tool is magnetic resonance imaging (MRI), which helps doctors see the inside of the brain. However, there are not major differences between the MRI results seen with tumefactive MS and those seen with brain tumors. Doctors therefore often biopsy (remove a small sample of tissue for testing) the lesions inside the brain, which can help make a more accurate diagnosis. Other methods include spinal fluid tests and blood tests to rule out other diseases with similar symptoms. 1

How is tumefactive MS treated?

There are no known treatments specifically used for tumefactive MS, in part because it is such a rare diagnosis. In addition, most patients experience only one episode. In one small study, a full 63% of patients had only one lesion after five years of follow-up. 31% ultimately developed MS.5

For most patients, the first line of treatment for tumefactive MS is corticosteroids to reduce swelling. For patients who do not improve with corticosteroids replacing the patient’s plasma (the liquid part of the blood) with plasma from a donor is the second option. Some patients have also been treated successfully with rituximab. Rituximab is a bio-engineered medicine that reduces the overactive functioning of the immune system. It is approved for use against rheumatoid arthritis and certain kinds of blood cancer.6

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