Managing Symptoms of NF1

Herbert B. Newton, MD, FAAN: There are several types of symptoms that are very common in these patients. One of the most common symptoms is pain, and with these types of tumors, that’s usually a neuropathic type of pain, which means it’s nerve related, often a burning type of sensation. This is because the parent nerve where the tumor is growing is being stretched, bent, irritated, and damaged by the growing tumor. Medications that are used for that are also used for other types of neuropathic pain, and those include Tegretol [carbamazepine], gabapentin, Elavil [amitriptyline], and Lyrica [pregabalin]. Any combination of those drugs or even using them by themselves to start with is often helpful in controlling or at least minimizing the neuropathic pain from a plexiform tumor.

In terms of NF [neurofibromatosis] plexiform tumor-related weakness and motor symptoms, this can be very common depending which nerves the tumor is growing from, especially if it’s in the brachial plexus, on some of the motor nerve roots along the lower spine, or in the lumbosacral plexus. We can’t just fix this weakness, per se. We have to have the patient focus on physical therapy and occupational therapy and work on their strength, gait, balance, coordination, and fine motor skills to improve their baseline function. Some types of braces may be helpful in terms of bracing their wrists and their ankles, and the therapist will guide the physician on what types of braces the patient needs.

In terms of psychosocial issues, as mentioned above, these are common in this patient population. Many things can be seen, including depression, anxiety, isolation, loneliness, and difficulty finding work. Oftentimes people have limited finances, and they have feelings of inadequacy and inferiority. We have many of our patients see a counselor or a psychologist. Sometimes our social worker will work with them and do sessions in the clinic. Even a psychiatrist can be helpful if the patient has severe disease and may need some medication.