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What is Neurofibromatosis? Print E-mail
Written by Eli Smith   
Thursday, 29 October 2009

This condition is a genetic disorder of the nervous system. It affects growth and development of nerve cells and tissues and causes tumors on the nerves. There are 2 types:
# NF1, which is the more common type
# NF2, which is a less common, but often more severe form

Contrary to common belief, NF is not the same as Elephant Man Disease.

What is going on in the body?


This disease is caused by a mutation in one of the genes of the body. About half the time, this mutation is inherited from a parent. But the other half of the cases arise spontaneously. NF1 and NF2 are caused by mutations of 2 different genes. This mutation causes tumors to grow along the nerves of the body. It can also affect how tissues such as bones and skin develop. NF2, though more rare, tends to be more severe. Its tumors form along the cranial and spinal nerves, especially the auditory nerves. It also causes other lesions of the brain and spinal cord.

What are the causes and risks of the disease?
A parent who has this disorder has a 50-50 chance of passing the same form of NF on to each of his or her children. But another 50% of cases develop on their own. It is not known why. People of all sexes and races have an equal chance of having NF. NF1 affects about 1 out of every 4000 births worldwide. NF2 is more rare, affecting only about 1 in 40,000 births worldwide. NF1 and NF2 together affect more than 100,000 people in the US.

What are the treatments for the disease?
Treatment for NF is focused on controlling symptoms for the most part. Surgery may be used to help some NF1 bone malformations or to remove tumors that are painful or bothersome. But there is a chance that tumors will grow back and in greater numbers. NF1 tumors become malignant or cancerous in only about 3 to 5 percent of cases. When they do, surgery, chemotherapy, or radiation may be used.

For NF2, surgery is sometimes used, but the doctor and patient will need to weigh the risks, such as hearing loss against the benefits. Radiation may be used in some cases.

What are the side effects of the treatments?


Side effects of treatments depend on the treatment used. Radiation and chemotherapy always carry some risks.

What happens after treatment for the disease?
Treatment of NF lasts a lifetime. Although NF cannot be cured, it can often be controlled with careful management and treatment. Any complications that do occur must be treated promptly.
How is the disease monitored?

All people with NF should be followed by a doctor at least once a year. Referral to a specialist for any vision or hearing problems should also be made. Children with NF should always have a yearly exam by an ophthalmologist. Blood pressure should also be monitored for any elevation above a healthy range. Any new or worsening symptoms should always be reported to the doctor.

 

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