How Are Neurofibromas Diagnosed & What Is The Best Medicine For It?

Neurofibromatosis/Neurofibromas refer to a genetic disorder, which causes the formation of tumors on the nerve tissues. These types of tumors may develop almost everywhere in the nervous system, which includes the nerves, brain, and spinal cord. Another fact about neurofibromas is that the tumors are usually benign or noncancerous types. However, in some cases, it becomes malignant or cancerous. Even though initially symptoms associated with the problem remain in a mild form, they later on results in many complications in the form of learning impairment, hearing loss, severe pain, vision loss, and problems related to blood vessels and heart.

How Are Neurofibromas Diagnosed?

Physical Examination And Medical History Review

Your doctor will start the diagnosis of Neurofibromas with a review related to the medical history of your personal life and family members. At the same time, he conducts a physical examination and checks the skin to identify spots by using a special lamp. Identification of spots is helpful in the diagnosis of NF1 easily.

Additional Tests Or Examinations

If any patient requires additional tests or examinations to diagnose the specific type of neurofibromas, such as NF1, NF2, and schwannomatosis, your doctor will recommend-

Eyes Examination

Your eye specialist may help you in detecting cataracts and Lisch nodules.

Examinations To Identify Balance And Hearing Problems

Your doctor will conduct the following examinations to assess the balance and hearing problems in NF2 patients-

  • Test to measure the patient’s hearing capacity i.e. audiometry examination
  • Test using electrodes to record the eye movements of a patient i.e. electronystagmography
  • A test measuring the electrical messages responsible to carry sound to the human brain from his/her inner ear, also known as brainstem auditory evoked type of response.(1)

Imaging Tests

Doctors recommend you for certain imaging tests, which include MRI, CT scan and X-ray to identify any type of abnormality in the bones, tumors in the spinal cord or brain and large numbers of small tumors. Especially, MRI is useful for the diagnosis of optic gliomas. Particularly, imaging tests are useful to monitor Schwannomatosis and NF2 types of neurofibromas.

Genetic Tests

Genetic tests are available to identify both NF1 and NF2 types of neurofibromas and doctors have to perform such tests prenatally. Only you have to consult your doctor to undergo genetic counseling. If you want to undergo a genetic test for the diagnosis of NF1, you should possess a minimum of two symptoms related to the condition. If your baby has only one symptom and does not have any family history related to neurofibromas, your doctor will monitor the baby to identify the development of any additional symptom.(1)

What Is The Best Medicine For Neurofibromas?

If you are suffering from NF1 or NF2 type of neurofibromatosis, your doctor will recommend for surgery combined with other effective procedures. However, if you are suffering from Schwannomatosis, your doctor will prescribe certain medications to manage your pain. These include the following-

  • Gabapentin drugs to deal with your nerve pain
  • Amitriptyline or any other similar type of tricyclic antidepressants
  • Norepinephrine and serotonin reuptake types of inhibitors, like for instance the duloxetine
  • Carbamazepine or topiramate epilepsy medications(2)

References:  

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