Tumefactive multiple sclerosis is a rare form of multiple sclerosis that involves a mass in the brain. It may resemble some other conditions, including cancerous tumors and tuberculomas.
The myelin sheath around nerve fibers conducts electrical signals and protects the nerves. In people with MS, there is scarring on the myelin sheath. This damage causes areas of plaques and lesions and the loss of certain functions.
When there is damage or breakage in the myelin sheath, the electrical impulses that the brain sends to the muscles do not work properly. This results in symptoms such as muscle weakness, pain, tingling, fatigue, and changes in vision and hearing.
During diagnosis, as well as a brain tumor or brain abscess, tumefactive MS may resemble tuberculoma, primary Sjögren syndrome, sarcoidosis, or other inflammatory or infectious conditions.
Demyelination can occur with various conditions, and tumefactive demyelination can resemble tumors or other medical issues.
However, in a review from 2017, which looked at data for 15 people with tumefactive demyelination, 44% developed MS within 8 months.
Imaging tests may show a large mass that looks like a tumor. A person may have one or several lesions.
People with tumefactive MS tend to have symptoms that are different from other MS types.
- changes in thinking
- speaking and understanding speech difficulties
A person may also experience mass effect, which is the effect a lesion has on surrounding brain tissues.
Mass effect can cause nausea, drowsiness, headaches, visual disturbances, and even behavioral changes.
A person will often recover from a flare of symptoms with tumefactive MS, but the symptoms may return.
Often, a person with tumefactive MS will develop relapsing-remitting MS (RRMS), which is the most common type of MS. A person will experience times when symptoms worsen, followed by a period of recovery.
A few people with tumefactive MS will experience minimal or no symptoms, according to the Genetic and Rare Diseases Information Center.
What is relapsing remitting multiple sclerosis (RRMS)? Find out more here.
Doctors do not know what causes tumefactive MS, but scientists consider it an inflammatory demyelinating disease.
The lesions are a symptom of MS, which results from a faulty immune response causing inflammation and the destruction of myelin.
Diagnosing tumefactive MS is difficult because it can resemble other medical conditions, including brain tumors and cancer.
Ways to confirm the condition and to rule out other diseases include:
- MRI scans
- cerebrospinal fluid test from a lumbar puncture
- nerve function tests
- blood tests
There is currently no cure for tumefactive MS, and there are no specific treatment recommendations. Each doctor will decide on the best treatment.
Steroid treatment: A doctor will often prescribe treatment with corticosteroids to help reduce inflammation and speed recovery.
Plasma exchange: If steroid treatment does not help, a doctor may suggest plasma exchange. This treatment involves extracting blood from the individual, removing components that may be harmful, and returning the blood to the body.
If steroid treatment and plasma exchange do not help, other medication options may relieve the symptoms.
Rituximab: A further possible treatment is with rituximab (Rituxan), a biological drug and immunosuppressant that doctors use to treat arthritis and some cancers. It changes the way the immune system works. Rituxan is not primarily for tumefactive MS, so doctors call this "off-label" use.
In one case study, a participant recovered from a flare following steroid treatment, but they experienced further flares in time.
They then received more immunosuppressive treatment, which improved the symptoms.
People should use caution with these medications as they can have serious side effects.
Treatment for RRMS
If a person with tumefactive MS goes on to develop RRMS, various options are available.
- Disease-modifying therapies, which affect the way the immune system works and may prevent flares and slow the progression of the disease.
- Corticosteroids to reduce inflammation and manage flares and severe symptoms.
- Specific treatments for different symptoms of MS, such as pain relief medication and antidepressants.
A wide variety of medical treatment, physical therapies, and lifestyle options are available to help a person manage their MS.
Tumefactive MS is a rare condition that involves large lesions on a person's brain that can resemble a tumor. There is no cure, and a doctor will treat the condition on a case by case basis.