Schwannomatosis

Diagnosis

To diagnose schwannomatosis, a healthcare professional reviews your personal and family medical history and performs a physical exam.

You also may need other tests to confirm the diagnosis and determine which type you have. These types include NF2-related schwannomatosis (NF2), SMARCB1-related schwannomatosis and LZTR1-related schwannomatosis.

Other tests include:

• Eye exam. An eye exam can check for vision changes or cataracts, which are sometimes linked with nerve tumors.
• 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 brainstem auditory evoked response.
• Imaging tests. MRI is the main imaging tool for schwannomatosis. It can reveal tumors in the brain, spinal cord or peripheral nerves and detect very small growths. X-rays or CT scans 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 look for changes in the SMARCB1, LZTR1 or NF2 genes. These tests can confirm the type of schwannomatosis, though sometimes no gene change is found. Genetic counseling can help families understand test results and inherited risk.

Treatment

Treatment for schwannomatosis focuses on managing pain, preserving nerve function and monitoring tumor growth. Care often involves a multidisciplinary team, including specialists in neurology, neurosurgery, pain medicine and genetics. There is no cure, but many treatments can improve comfort and quality of life.

Surgery and other procedures

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

• Surgery to remove tumors. Surgery may be recommended to remove tumors that cause pain or affect vital functions such as hearing or balance. While surgery can help ease symptoms, it does not cure schwannomatosis.
• Stereotactic radiosurgery. This procedure delivers radiation to the tumor without the need to cut into the body. Stereotactic radiosurgery might be an option to control tumor growth linked to NF2-related schwannomatosis while helping to preserve hearing.

Cancer treatment

Tumors linked to schwannomatosis rarely turn into cancer. If they do, 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) 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.

Monitoring and long-term care

Regular MRI scans and exams help monitor tumor growth and nerve function. Some people join clinical trials studying new medicines that may slow tumor growth or relieve pain. Support groups, counseling and integrative therapies also can help manage chronic pain and improve well-being.

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. It also may help to reach out to family members and friends for support.

Preparing for your appointment

You may be referred to a specialist 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 professional 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?