Neurofibromatosis type 2: symptoms, causes, drugs, etc. • hello healthy

Definition

What is neurofibromatosis type 2?

Neurofibromatosis type 2 (NF2) is a genetic disorder in which tumors form within nerve tissue. These tumors can be non-cancerous or cancerous. Unlike other types of neurofibromatosis, people with NF2 develop a slow-growing benign tumor (acoustic neuroma) in both ears. This tumor is called a vestibular schwannoma.

How common is neurofibromatosis type 2?

This health condition is very rare. Neurofibromatosis type 2 is estimated to occur in 1 in 33,000 people worldwide. This disease is rarer than neurofibromatosis type 1. Neurofibromatosis is usually diagnosed in early childhood or early adulthood.

This can be overcome by reducing risk factors. Talk to your doctor for more information.

Signs & symptoms

What are the signs and symptoms of neurofibromatosis type 2?

Depending on the location and size of the tumor, symptoms may differ. Common symptoms of neurofibromatosis type 2 are:

Ringing in the ears (tinnitus)
Slow hearing loss
Impaired balance and walking
Dizzy
Headache
Face weakness, numbness, or pain
Visual disturbances.

Symptoms of neurofibromatosis type 2 are very mild, but can lead to a number of serious complications such as learning disabilities, heart and blood vessel (cardiovascular) problems, facial decline, and extreme pain.

Some of the other symptoms or signs may not be listed above. If you feel anxious about these symptoms, consult your doctor immediately.

When should I see a doctor?

If you have any signs or symptoms listed above or have any questions, consult your doctor. Tumors in NF2 grow slowly so they can be controlled by early diagnosis. Every body functions differently from one another. Always discuss with your doctor to find the best solution for your situation.

Cause

What causes neurofibromatosis type 2?

Neurofibromatosis type 2 is caused by mutations in genes primarily in chromosome 22. This gene controls the production of a protein called merlin. Merlin's role is to suppress cells from growing and dividing too fast or uncontrollably. NF2 creates nonfunctional merlin, thus allowing tumors to form.

Risk factors

What increases my risk for neurofibromatosis type 2?

There are many risk factors for neurofibromatosis type 2, namely:

Have a family member with NF2
Previously experienced NF2.

Drugs & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

How is neurofibromatosis type 2 diagnosed?

The doctor will examine your physical symptoms and ask questions about your condition. Then, neurofibromatosis type 2 can be diagnosed with the following tests:

Genetic testing: to look for mutations in genes.
Imaging studies: to check the size, location, and complexity of the tumor.
Auditory, ophthalmic, and histological examinations: to check hearing, vision, and ask about other medical conditions you may have.

What are the treatments for neurofibromatosis type 2?

Neurofibromatosis type 2 cannot be cured. However, there are various ways to control tumor growth, for example by using drugs. Some of the common medications are:

Gabapentin (Neurotin®) or pregabalin (Lyrica®) for nerve pain
Tricyclic antidepressants such as amitriptyline
Serotonin and norepinephrine reuptake inhibitors such as duloxetine (Cymbalta®)
Epilepsy drugs such as topiramate (Topamax®) or carbamazepine (Carbatrol®, Tegretol®).

If you are well, your doctor may recommend removing the tumor to relieve pain. If the tumor is cancerous, you may need cancer treatments such as chemotherapy or radiation therapy.