Tumefactive Multiple Sclerosis: Causes, Symptoms, Treatment, Diagnosis

What is Tumefactive Multiple Sclerosis?

Tumefactive Multiple Sclerosis is one of the rarest form of multiple sclerosis which is characterized by a mass lesion in the brain. The features of Tumefactive Multiple Sclerosis are quite similar to other medical conditions like brain tumor. The lesion seen in Tumefactive Multiple Sclerosis is greater than 2 cm in diameter. The presenting features of Tumefactive Multiple Sclerosis are also quite different from the common form of MS and include frequent bouts of headaches, problems with thinking and focusing. The patient will also have problems speaking and may have episodes of seizures. The primary cause of Tumefactive Multiple Sclerosis is not clear and this condition goes on to develop into the relapsing remitting form of multiple sclerosis [1].

As of now, there is no cure for Tumefactive Multiple Sclerosis and treatment is aimed at calming down the symptoms. When imaging is done during the diagnosis of this condition, the radiographs will show images that resemble a tuberculoma, sarcoidosis, or Sjogren Syndrome. The images may also resemble certain other inflammatory and infectious conditions [1].

What is Tumefactive Multiple Sclerosis?

However, a study done in 2017 done on 15 people with Tumefactive demyelination showed that around 50% of them went to develop full blown multiple sclerosis within a year of diagnosis [1].

What Causes Tumefactive Multiple Sclerosis?

As of now, the primary cause for Tumefactive Multiple Sclerosis or for that matter any form of MS is not known. However, there are certain risk factors that increase the likelihood of an individual having Tumefactive Multiple Sclerosis. Some studies suggest the role of genetic makeup of an individual in increased risk of developing Tumefactive Multiple Sclerosis. It is well known that an individual with a family history of multiple sclerosis is more at risk for developing various forms of multiple sclerosis including the Tumefactive form [2].

Studies also suggest that people who live in the Arctic and the Antarctic regions that are away from the equator are more likely to develop multiple sclerosis. This is because these people do not receive adequate vitamin D from sunlight which people living close to the equator receive. Vitamin D plays a key role in boosting the immunity of an individual and acts as a protector against various forms of demyelinating diseases. Some studies also link nicotine abuse to development of Tumefactive Multiple Sclerosis [2].

There are some researchers who are of the belief that some forms of bacteria and viruses have the potential to trigger multiple sclerosis. However, these claims are not matched with evidence [2].

What Are The Symptoms of Tumefactive Multiple Sclerosis?

The symptoms of Tumefactive Multiple Sclerosis are quite different from that of other variants of Multiple Sclerosis. The symptoms include persistent bouts of headaches.

The affected individual will also have altered mental status with periods of confusion and a change of thought process. Some people with Tumefactive Multiple Sclerosis also have trouble understanding and putting their thoughts across. They may also have episodes of seizures. People with this condition often at times feel weak and lethargic [2].

Some patients with Tumefactive Multiple Sclerosis have mass effect. A mass effect is referred to the symptoms caused due to the lesion in the brain when it affects the tissues surrounding it. It causes the patient to be nauseous and drowsy. Some people complain of vision disturbances and in some cases there are also certain behavioral changes seen [2].

The symptoms of Tumefactive Multiple Sclerosis wax and wane and there are periods of remission in between flares. Patients with Tumefactive Multiple Sclerosis often go on to develop relapsing remitting form of multiple sclerosis, which is the most common variant of MS [2].

How is Tumefactive Multiple Sclerosis Diagnosed?

It is quite challenging to diagnose Tumefactive Multiple Sclerosis since its presenting features mimic that of many other medical conditions including tumors and cancer.

There are many other conditions like lupus and neuromyelitis optica which also have demyelination as the main presenting feature. To definitively diagnose Tumefactive Multiple Sclerosis, the physician will first assess the symptoms of the patient [2].

Based on the features described, he or she may order a series of radiographic studies to investigate further. These will include CT and MRI scan of the brain. A lumbar puncture will also be done to analyze the cerebrospinal fluid followed by a series of nerve function and blood tests. The radiographs of an individual with Tumefactive Multiple Sclerosis will display multiple brain lesions which will be more than 2 cm in diameter and there will also be surrounding cerebral edema which will confirm the diagnosis [2].

How is Tumefactive Multiple Sclerosis Treated?

As of now, there is no definitive cure for Tumefactive Multiple Sclerosis and the treatment is aimed at controlling exacerbations and decrease symptoms. There are a variety of approaches to control the symptoms of multiple sclerosis of which the most preferred is steroids. Corticosteroids are extremely effective in decreasing inflammation and hasten the recovery process to get through with the relapse quicker [3].

If this treatment is ineffective then plasma exchange is the next step in the management of Tumefactive Multiple Sclerosis. Plasma exchange involves removing blood from the patient, removing the harmful substances from it, and then returning it back. In case, if it also does not provide any relief from the symptoms then immune suppressants in the form of Rituximab may be prescribed to control the symptoms. This drug is also used to treat various forms of cancer and arthritis [2].

Rituximab is not given specifically for Tumefactive Multiple Sclerosis but is at times considered for off label use by some physicians. In some study it was observed that a participant went into remission following steroid treatment for a flare of Tumefactive Multiple Sclerosis but then the patient relapsed and had to be treated with immunosuppressant drugs. It should be noted that these medications have significant side effect profile and hence should be used with caution [2].

People with Tumefactive multiple sclerosis often at times go on to develop relapsing remitting form of multiple sclerosis. For such individuals, there are disease modifying therapies which impact the working of the immune system and slows down the progression of the disease with the patient having more periods of remission and relapse. Corticosteroids are the gold standard for treatment of flares of multiple sclerosis. They help in calming down the inflammation and control the symptoms of a flare [2].

In some cases, the patient may be given antidepressants and pain medicatio1ns to control the pain caused by this disabling condition. Additionally, the patient is enrolled in physical therapy and advised to make lifestyle changes to cope up with the symptoms of Tumefactive Multiple Sclerosis [2].

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