Neurofibromatosis is diagnosed through physical exams, imaging tests, and genetic testing. NF1 causes physical symptoms such as café au lait spots, while NF2 affects balance and hearing. Schwannomatosis causes chronic pain. Treatment options include surgery and monitoring.
The tests and exams used to confirm a diagnosis of neurofibromatosis vary depending on the type of disorder suspected. For example, neurofibromatosis 1 (NF1) causes physical symptoms that are noticeable to the naked eye such as café au lait spots while neurofibromatosis 2 (NF2) affects balance and hearing. The rarest type of schwannomatosis usually manifests as chronic pain. The doctor performing the exam may order eye and ear exams, as well as a complete physical exam and imaging tests such as X-rays. Genetic testing may also be ordered and may be done prenatally.
When diagnosing NF1, the examining physician will usually focus on the more common physical signs of the disease. There should be at least six café au lait spots and freckles in the groin area on the patient’s skin. There may also be at least two Lisch nodules and neurofibromas. Some patients may have bone lesions or a tumor in the optic pathway. Many NF1 patients will also have a first degree relative with the disorder and are shorter with a larger than average head.
A diagnosis of neurofibromatosis type NF1 can usually be made within the first two years of the patient’s life. There are also prenatal genetic tests for NF1, which confirm the presence or absence of the NF1 mutation before birth. Additional tests usually include eye exams and imaging such as X-rays and computed tomography scans to help locate bone lesions and tumors.
NF2 is a rarer type of this disorder and is inherited in about half of the cases. It is characterized by tumors on the branches of the auditory and vestibular nerves. As a result, the patient will likely experience balance problems, ringing in the ears, and even hearing loss. Cataracts may also be present. A diagnosis of neurofibromatosis of this type usually involves an ear exam or hearing test and a family history of the disorder.
The rarest form of this ailment is schwannomatosis. Patients with this type usually develop schwannomas all over or in a specific part of the body but not the vestibular nerve. Chronic pain is the hallmark symptom, although some patients also experience tingling and numbness. When confirming a diagnosis of neurofibromatosis of this type, the treating physician will look for schwannomas. Prenatal testing for NF2 is available but with an accuracy rate of about 65 percent while there is no genetic testing for schwannomatosis.
Any diagnosis of neurofibromatosis can be difficult for the patient because it is a progressive disease that usually gets worse with time. In most cases of NF1, the symptoms are mild and the patient will have a normal life expectancy. Those with NF2 will likely experience impairment of balance and hearing. Surgical options can remove large, malignant tumors as they grow, providing some relief. Most patients with neurofibromatosis lead normal lives, requiring only monitoring.
Protect your devices with Threat Protection by NordVPN
