What Is Neurofibromatosis?
Neurofibromatosis (NF) is a genetic disorder that causes tumors to develop in the brain, spinal cord, and nerves. The condition occurs as a result of a gene abnormality. There are two types of NF, both of which cause tumor growth in various areas of the body.
Neurofibromatosis type 1 (NF1) is more common than neurofibromatosis type 2 (NF2). NF1 causes tumors to form in various tissues and organs of the body. This causes skin problems and bone deformities. NF2, on the other hand, causes tumors to develop on the brain and spinal nerves. Although most tumors caused by NF are not cancerous, they can still be dangerous and impair your quality of life.
NF2 and Tumors
NF2 causes noncancerous tumors to grow on nerves in the brain and spinal cord. Unlike NF1, NF2 usually doesn’t present any visible symptoms and is rare in children. The tumors caused by NF2 are usually on the eighth cranial nerve, which connects your inner ear to your brain. These tumors are called acoustic neuromas. They can cause hearing loss and problems with balance.
Schwannomas are another type of tumor that can occur in people with NF2. These tumors originate from Schwann cells, which protect your nerve cells and neurotransmitters. Spinal cord schwannomas are common in those with NF2. If left untreated, they can cause paralysis.
NF2 and Genetics
Since NF2 is a genetic condition, the disorder can be inherited from a parent. But this isn’t always the case. According to the National Institute of Neurological Disorders and Stroke, between 30 and 50 percent of cases are caused by a random genetic mutation. Once the mutation occurs, the condition can be passed down from generation to generation.
The symptoms of NF2 can occur at any age, but they typically appear during adolescence or early adulthood. They can vary in number and severity depending on the exact location of the tumors.
Common symptoms of NF2 may include:
- ringing in the ears
- problems with balance
- glaucoma (an eye disease that damages the optic nerve)
- hearing loss
- vision impairment
- numbness or weakness in the arms and legs
See your doctor for an examination if you have any of these symptoms. They can be symptoms of other conditions as well, so an accurate diagnosis is essential.
Your doctor will perform a thorough physical examination and order certain tests to check for hearing loss or impairment. To confirm a NF2 diagnosis, your doctor may want to perform additional tests, including:
- CT scan
- MRI scan
- balance tests
- vision tests
- genetic testing
There’s no cure for either type of NF. However, your symptoms can be managed with treatment. Regular checkups and monitoring are important for people with NF2. This way, any potential complications can be caught and treated early. Physical exams, neurological tests, and a hearing test should be conducted at least once a year. Annual visits with an ophthalmologist (eye doctor) are also recommended.
Surgery may be recommended if your tumors become too large or begin to cause sensory impairment. The tumors associated with NF2 form in problematic locations. The surgical procedure usually requires a team of neurosurgeons, ophthalmologists, and ear, nose, and throat (ENT) specialists. These specialists ensure that the tumor is removed safely without causing damage to the surrounding areas.
Stereotactic radiosurgery may be an option to treat some tumors. This technique uses targeted rays of radiation to attack and shrink the tumors.
Depending on the type and location of your tumors, chemotherapy may also be recommended. This is an aggressive form of drug treatment that helps reduce the size of tumors.
Research is being conducted on the genetic aspects of NF2. There may be clinical trials available in your area. A clinical trial involves using cutting-edge treatments to address a certain medical condition. Participants are closely monitored for any adverse side effects. These trials aren’t appropriate for everyone, but may be helpful for some people with NF2. Ask your doctor whether participation in a clinical trial may be beneficial for you.