Schwannomatosis

Diagnosis

To diagnose schwannomatosis, a healthcare professional begins with a review of your personal and family medical history and a physical exam. You also may need other tests to diagnose NF2-related schwannomatosis (NF2) or SMARCB1- and LZTR1-related schwannomatosis.

Other tests include:

• Eye exam. An eye exam can reveal cataracts and visual loss.
• Hearing and balance exams. These include a test that measures hearing called audiometry and a test that measures balance by recording eye movements, known as electronystagmography. Another test measures the electrical messages that carry sound from the inner ear to the brain, known as brain stem auditory evoked response.
• Imaging tests. X-rays, CT scans or MRIs can help identify bone changes, tumors in the brain or spinal cord, and very small tumors. Imaging tests also are used to monitor the condition after diagnosis.
• Genetic tests. Genetic tests won't always identify NF2 or SMARCB1- and LZTR1-related schwannomatosis because other genes that aren't known may be involved with the condition. However, some people choose genetic testing before having children.

Treatment

Treatment for schwannomatosis may include surgery or pain management. You may need regular exams and tests to monitor tumor growth. There is no cure for schwannomatosis.

Surgery and other procedures

Surgery or other procedures may be needed to treat serious symptoms or complications.

• Surgery to remove tumors. People who have NF2-related schwannomatosis (NF2) and have hearing loss, brain stem compression or tumor growth, may need surgery to remove acoustic neuromas. Complete removal of the tumors can ease pain.
• Stereotactic radiosurgery. This procedure delivers radiation to the tumor without the need to cut into the body. Stereotactic radiosurgery might be an option to remove acoustic neuromas related to NF2 while preserving hearing.
• Auditory brain stem implants and cochlear implants. These devices might help improve your hearing if you have NF2 and hearing loss.

Cancer treatment

If tumors become cancerous, they're treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. Early diagnosis and treatment are the most important factors for a good outcome.

Pain medicines

Managing pain is an important part of treatment for SMARCB1- and LZTR1-related schwannomatosis. Your healthcare professional might recommend:

• Medicines for nerve pain such as gabapentin (Neurontin, Gralise, Horizant) or pregabalin (Lyrica).
• Tricyclic antidepressants such as amitriptyline.
• Serotonin and norepinephrine reuptake inhibitors such as duloxetine (Cymbalta).
• Epilepsy medicines such as topiramate (Topamax, Qudexy XR, others) or carbamazepine (Carbatrol, Tegretol, others).

Researchers are studying medicines that can shrink noncancerous tumors that grow on the hearing and balance nerves in the ears.

Coping and support

Learning you have schwannomatosis may cause a range of emotions. Joining a support group that meets in person or online may help you cope with the emotions you're feeling. Also reach out to family members and friends for support.

Preparing for your appointment

You may be referred to a doctor who specializes in brain and nervous system conditions, known as a neurologist.

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do in advance, such as fasting before a specific test. Before your appointment:

• Write down a list of concerns, making a note of when you first noticed them.
• Bring a complete medical and family history with you.
• Write down key personal information, including any major stresses or recent life changes.
• Make a list of all medicines, vitamins or supplements that you are taking.
• Write down questions to ask your healthcare professional.

For schwannomatosis, basic questions to ask include:

• What type of schwannomatosis do I have?
• What tests do I need?
• What treatments are available?
• How should the condition be monitored for changes?

Don't hesitate to ask other questions.

What to expect from your doctor

Your healthcare provider is likely to ask you several questions, including:

• When did you first notice symptoms?
• Have your symptoms changed over time?
• Is there a family history of schwannomatosis?