Neurofibromatosis treatment


Neurofibromatosis is a genetic disorder that causes tumors to grow within the central nervous system. An estimated 100,000 Americans and 2 million persons worldwide suffer from one of the three forms of this disease, named neurofibromatosis type 1 (NF-1), neurofibromatosis type 2 (NF-2) and schwannomatosis.

A host of specialist doctors cooperate to treat patients with neurofibromatosis, including neurologists, neurosurgeons, dermatologists, geneticists, and oncologists, to name a few of them. In general the disease is not life-threatening, but it can cause significant health problems, both chronic and acute, which can last a lifetime. There is no cure for neurofibromatosis, but there are many established treatment options, and many more under investigation.

This article will look at those treatment options. However, it should be noted that neurofibromatosis treatment does not treat the disease itself, it only treats the symptoms of the disease.

Neurofibromatosis treatment: Surgery

Surgery is the most commonly used treatment against the symptoms caused by neurofibromatosis. The procedure is easy to explain, if not easy to perform: it generally involves removing all, or most of, or as much of, the tumors which are either pressing on or causing damage to surrounding tissues or organs. On the positive side, this normally results in symptom relief. On the negative side, since NF is not considered curable, these tumors have a tendency to grow back, requiring further treatment, and a second surgery on the same site can be very problematic. Also, in some cases, surgery in NF can lead to severe hearing impairment or damage to nearby nerves.

Surgery is the primary treatment modality, but sometimes either chemotherapy, biological therapy, and/or certain types of radiotherapy are used as adjunct therapy, either before surgery or after surgery in an effort to make the surgical intervention as effective as possible.

Neurofibromatosis treatment: Chemotherapy

In the treatment of neurofibromatosis type 1, several chemotherapeutic agents and biological drugs have been under investigation in clinical trials to determine their ability to shrink or eliminate NF-1 tumors. While the drugs may be used by themselves, it is also common for this treatment to be used in addition to surgery. The agents under investigation include but are not limited to:

Methotrexate and vinblastine: This pair of chemotherapy drugs are among the oldest such drugs in medicine and their efficacy and toxicity profile are well known.

Gleevec (imatinib): This drug is much better known as perhaps the most important anti-cancer drug ever developed, which has changed the lives and outcomes of several thousands of patients with chronic myeloid leukemia.

Sirolimus (rapamycin): This immunosuppressant drug has traditionally been used for patients in post-transplant setting and acts to prevent transplantation rejection. However, the drug also has antiproliferative effects, giving rise to the possibility that it can be an effective anti-cancer agent.

Pirfenidone: This drug has antiproliferative effects by inhibiting certain growth factors found on cancerous cells.

Peginterferon alfa-2b: This drug was originally developed as a treatment for hepatitis C, but was later approved for melanoma treatment and is occasionally used off-label to shrink neurofibromas.

Lovastatin: This drug is typically known for lowering cholesterol (it is a statin, not a chemotherapeutic agent), but results of a small Phase I trial suggested it may help cognitive development in children with NF-1. Phase II studies are currently underway.

For NF-2, studies show the drug bevacizumab (Avastin) to be effective in shrinking the tumors that can lead to hearing impairment.

Neurofibromatosis treatment: Radiation

Along with surgery, radiation therapy has generally played a role in the treatment of NF-2, and one of the developments in this area has been the use of stereotactic radiosurgery. This involves a very focused beam of radiation, which doctors can use to radiate tumors without damaging nearby tissue as normal radiation often does. However, this procedure, like radiation itself, carries with it a carcinogenic risk, or a risk of causing cancer independent of the NF, especially if it is used repeatedly over the course of several years on a single patient, and the concern is that these patients are so young as it is; there is naturally a very strong aversion to even raising their risk factor for developing radiation-induced cancer.

Neurofibromatosis treatment: Counseling

Finally, sometimes patients with any type of NF can suffer from psychological problems that arise as a result of their disease. They may face emotions ranging from anger to anxiety, and the pain they suffer can lead to reclusiveness and social withdrawal. Thus psychosocial counseling, support groups and supportive therapy, even genetic counseling, can all contribute to the effective treatment of patients suffering from neurofibromatosis and help improve their overall quality of life.



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