be iNFormed – Pain in Neurofibromatosis-1
Pain in NF1
One of most common challenges for individuals with NF1 is living with chronic pain. By definition, chronic pain is persistent pain that continues for weeks, months, or even years. This occurs when the pain signals within a person’s nerves continue to fire, and the severity can vary by individual. In general, it is estimated that about 25% of the general U.S. population ages 20 and over report pain lasting greater than 24 hours. In patients with NF1, estimates of those experiencing chronic pain range from 35 to 53%.
Common Causes of Pain in NF1
What are some of the NF1-related symptoms and conditions that cause pain? Probably the most common of these is plexiform neurofibromas, or PNs. PNs are benign tumors comprised of a proliferation of cells in the nerves. They are found in about 30 to 50% of people with NF1. Most often, they grow rapidly during childhood, although they may go for years without being detected.
Up to half of people with NF1 may experience recurrent headaches that are severe enough to interfere with their daily lives. These headaches can begin during childhood, and are typically described as migraines or tension headaches. An occasional cause of headaches in adolescents and adults with NF1 is an adrenal tumor called a pheochromocytoma. This is an endocrine tumor that causes an excess of catecholamine.
About one fourth of people with NF1 develop scoliosis or other orthopedic problems. Scoliosis often is treated with surgery and corrective braces, both of which can be quite painful and can negatively impact a person’s quality of life. Another orthopedic condition that occurs in a small number of people with NF1 is called pseudarthrosis, a problem that can lead to pain and fractures of the long bones that don’t heal.. Other causes of spinal pain in NF1 are spinal tumors, dural ectasia and vertebral damage resulting from osteopenia.
Glomus tumors are noncancerous tumors that appear on fingers and toes. They are rare compared to PNs, but cause extreme pain when they occur. Gastrointestinal complications in the NF1 population can be caused by neurofibromas in the stomach and are sometimes called abdominal migraines. These are also uncommon in NF1, but when they occur they can lead to severe pain.
Given the many pain-related symptoms and complications in individuals with NF1, it is important to let your doctor know about any pain you have. It is ideal to work with a physician who was expertise in NF1. If your doctor does not have experience with this disease, it may be worthwhile to seek out someone who does.
Impact of Pain on Daily Life
The conditions and symptoms described above emphasize the major challenges faced by people with NF1. Not surprisingly, researchers have found that more severe symptoms, including pain, are associated with diminished quality of life among adults and children with NF1. Further, more severe pain has been found among children who have more symptoms of depression and anxiety. According to questionnaires completed by parents of children with NF1, the children with worse pain have a harder time keeping up with activities of daily living, such as dressing, grooming, and getting along with peers. These research findings seem to suggest that pain has a negative impact on things like emotional functioning and quality of life. However, the relationship seems to work both ways. That is, many people report that their pain feels worse when they feel sad, when the quality of their relationships is poor, or even when they have an overall decrease in life satisfaction.
Treatment for Pain
A) Medical
Many researchers are developing and investigating drugs that they hope will prevent tumor growth and ultimately shrink the size of PNs. But right now, the main treatment is surgical removal of the tumors. Because these tumors grow along the nerves, surgery can be complicated and may be avoided altogether if the risk to loss of function is too great. Also, many times the tumors (and associated pain) return after surgery.
NF1-related symptoms sometimes can be managed with pain medication, including nonsteroidal anti-inflammatory drugs (NSAIDs, such as ibuprofen), anticonvulsants (such as Neurontin), and narcotics (such as morphine and oxycodone). But these options are not perfect. Many people taking these medications experience side effects, such as loss in appetite, constipation, nausea, rash, mood or sleep disturbances. Moreover, the medications do not always get rid of pain completely. In fact, researchers have noted that children with NF1 taking pain medication rated their pain higher than those not on pain medications. In our own experience with patients who come to the NIH, we frequently meet people who complain of pain despite taking pain medication. Moreover, these individuals often have been experiencing pain for a number of years and have considerable difficulty coping with their pain.
B) Psychological Treatments
So far, no research about psychological methods for managing pain in NF1 has been published. However, techniques that have been found to be helpful in people with other chronic pain conditions may offer some guidance.
There are several types of stress management techniques that can be helpful for people with pain due to a variety of conditions. Progressive muscle relaxation and guided imagery have been used with some success in patients with cancer, osteoarthritis, and recurrent abdominal symptoms. Another option, mindfulness-based treatments, teaches individuals to focus on present moment sensations with an attitude of acceptance and without judgment. These techniques are becoming increasingly popular, as a growing body of research supports their effectiveness with chronic pain patients.
Cognitive-behavioral therapy (CBT) involves trying to change the way a person thinks about his or her pain, realizing how those thoughts impact behavior, and then gradually working towards a return to normal functioning. A related technique, Acceptance and Commitment Therapy (ACT), focuses on helping patients live a full, satisfying life doing the things they value the most in spite of their pain. Another technique that is often effective is biofeedback, which involves teaching a person to regulate their bodily responses to pain, such as muscle tension, heart rate, and brain waves. Many of these techniques are paid for by insurance, although coverage varies widely. Some companies may be more likely to help with the cost if the technique is part of a comprehensive psychological treatment plan rather than a specific pain coping technique in isolation.
C) Physical Activity
Yoga has been found helpful among adults with arthritis, low back pain, and other conditions. Its benefits include a reduction in pain severity and an increase in one’s ability to accomplish their day-to-day tasks. Given that many individuals with NF1 are limited in their ability to play sports or do aerobic exercise; this may provide a suitable alternative. More vigorous physical activity can reduce pain in various disorders, but exercise programs should always be tailored to the individual’s functional abilities and discussed with physicians before starting.
Any of the above techniques should be done in consultation with an appropriate health professional, such as a physician or psychologist. No treatment works well for everyone, but many people with chronic pain benefit from finding the medical and/or psychological treatment that is right for them. Also, it is very important to inform your doctor immediately of any new pain or if your pain increases, especially if the pain emanates from a known PN since new or worsening pain could indicate tumor growth or a malignancy. In addition, tell your doctor if you have any change in your ability to accomplish normal activities of daily living. Even though doctors do not have all the answers, it is important for patients to work with their physicians as a team and to be actively engaged in their own care.
References
Burns, K. M., Wolters, P. L., Martin, S., Baldwin, A., Dombi, E., Kurwa, A., Gillespie, A., Salzer, W., and Widemann, B. (2011). Parent and self reports of pain in children and adolescents with NF1 and plexiform neurofibromas: relation to quality of life, social-emotional functioning, and physical manifestations. Poster presented at the National Conference in Pediatric Psychology, San Antonio, TX.
Heuschkel, R., Kim, S., Korf, B., Schneider, G., & Bousvaros, A. (2001). Abdominal migraine in children with neurofibromatosis type 1: a case series and review of gastrointestinal involvement in NF1. Journal of Pediatric Gastroenterology and Nutrition, 33(2), 149-154.
Jett, K., & Friedman, J. M. (2010). Clinical and genetic aspects of neurofibromatosis 1.Genetics in Medicine, 12(1), 1-11.
Korf, B. R., Schneider, G., & Poussaint, T. Y. (1999). Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions. Genetics in Medicine, 1(4), 136-140.
Page, P. Z., Page, G. P., Ecosse, E., Korf, B. R., Leplege, A., & Wolkenstein, P. (2006). Impact of neurofibromatosis 1 on Quality of Life: A cross-sectional study of 176 American cases. American Journal of Medical Genetics Part A, 140A(18), 1893-1898.
Tonsgard, J. H. (2006). Clinical manifestations and management of neurofibromatosis type 1. Seminars in Pediatric Neurology, 13, 2-7.
Kim, A., Gillespie, A., Dombi, E., Goodwin, A., Goodspeed, W., Fox, E., Balis, F., and Widemann, B. (2009). Characteristics of children enrolled in treatment trials for NF1-related plexiform neurofibromas. Neurology, 73(16), 1273-1279.
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After being diagnosed with NF1 at 10 about the late part of 1988 I finally got a response from who I believe is a NP ( she is new to my PCPs office and I didn’t really bother to check after my visit and here is why) that I just can’t get over. This quack yes I said it QUACK told me to try using a hot paper clip to remove a module on my stomach when I asked about having it removed and no she wasn’t joking, believe me I asked just to make sure. I haven’t said anything to my PCP yet but I have scheduled an appointment to do so. I guess I shouldn’t be surprised since she asked what the rash/ bumps were on my hands and believe me when I say I was a bit flabbergasted as my chart clearly stated I have NF1. Moral of the story don’t be afraid to get a second opinion.
Mark, it is unfortunate that you had such an experience from a professional medical provider and as a Registered Nurse myself, am aghast at the experience you described. I concur with your “moral of the story” in that I urge folks to get a second opinion in nearly every situation that would involve your or a loved one’s treatment. There are many different approaches to treatment and it is wise to seek out various alternatives for one’s own, specific situation.
My Son is 7 years old an was born with nf1 for the last month he been complaining on an off about pain in he left leg he limps sometimes then it will get better an then out of the blue it start again..
he eats alot of food an it looks like he hasn’t put on weight he still looks skeletal skinny is that normal for nf1
Hi, Tammy and thanks for your question. As we are not physicians, we cannot reply to your query with specific medical certainty. We would encourage you to reach out to your NF practitioners for their advice on this issue, as pain in a youngster can be any number of issues, many of which are benign.
I have NF1as does my son. In the past 8months I have had 2 strokes. since having the stroke my left leg turns inwards
Sometimes the pain is so bad and the pain relief is not doing a thing to help
pain
I’m sorry for your troubles. Have you followed up with your physician and discussed possible pathways for treatment? We are not physicians here, but that would seem like your best starting point.
Have anyone been told they cant take ibuprofen if they got neurofibromatosis as it does something to the liver or kidneys
We’re not physicians, however, I can say that I have never heard that. I do know that ibuprofen should be avoided if possible for people with kidney disease or early signs of kidney disease. So if you have an issue with your kidneys caused by NF then it would make sense to minimalize use. I would discuss this with your physician.
Hello, I am 36 yo male who was just diagnosed with plexiform nf1 about 3 to 4 years ago. I wouldn’t wish this on anyone. I live with pain 24/7 I feel pain through out my entire body. I have alot of tumors deep in nerves and alot on top of skin that they look like a small hole like they are growing from outside inn as well as thinning of skin these are painfully when touched. I am on high dose of narcotic medication already and gabipintin. There are days that I can’t get out of bed due to pain. I have been pushed away from over 12 doctors that I was referred to that they couldn’t help me. Recently they found 2 small tumors in brain as well as my optic nerves enlarged over 12m as my vision is going away blurry and double vision and headaches that’s don’t go away. I haven’t ben able to work for over 2 years now due to this. Had a Disability hearing last week and the doctor Disability used to testifi about my condition said that what I have shouldn’t cause any pain if it did tylonole or advill would be more than enough.
Its so hard to have to hide how I feel so I don’t worry my family and loved ones. I just don’t know what else to do. This is just so draining and just tired of being in pain every single day. If anyone can help I live in Washington. I have also tried THC with not much help.
Wow, who is this doctor? We’re so sorry for your pain and yes NF can cause huge pain issues in some people, especially with plexiforms. You need a doctor who is familiar with NF to treat you, if you don’t already have one. We’ll respond to you privately to find out more and see how we can help. We don’t cover Washington, but there is a group called NF Northwest.
Hi thank you. Any will halo at this point. The doctor who mentioned this at hearing is a doctor by the name of Dr James M Haynes. If you look this doctor up all of the ratings are 1 star. He has never seen or treated a patient with NF1
I was diagnosed with nf1 when I was a year old. In 4th grade, my knee started to randomly lock up for a second or two but then would easily unlock. Today, almost a senior in high school, I cannot bend my knee farther than 90 degrees without it locking up, and it can stay locked up to the point where I have to visit the E.R. My doctor told me I have patella femoral syndrome, because my knee is swollen and my patellas go off the side when I bend them. Is this somehow related to nf1?
Good question, however we don’t have the answer. Sorry! You should try to see a doctor who is experienced in NF.
I am 19 living with nf type 1 and I experience stomach pain at least 3-5 times a week to where I can’t move I’m sweating and nothing helps no medication no home remedies , only throwing it all up . I have had test done and everything and nothing is “wrong “ I think it’s because when I tell them I have nf they give me a look like tf is that . Is there any where in Florida anyone would suggest I go . I used to go to the numors children’s hospital but they won’t even consider seeing me too help. I will be in college in a few months and into the real world . I don’t want to constantly feel this way. Any one go through this ?
We received your post on our website. I’m sorry for your difficulties and know how frustrating it is. I would keep pursuing this issue. Have they checked for small tumors on your adrenal gland? I’m not a doctor, but I know these can sometimes be hard to diagnose. Also, go the http://www.nfcollective.com to look for doctors in Florida. Unfortunately, Florida is not an area we cover so I’m not familiar with the doctors there.
Do you know of any NF doctors in Tulsa. Okla
I’m sorry but NF Midwest doesn’t cover Oklahoma so we aren’t familiar with doctors there. You should go to the new comprehensive website that we have collaborated on at http://www.nfcollective.org and search “Find a Doctor”. You also may want to contact NF Central Plains.
Derrick I am in Tulsa as well. I have not found any doctors in the state of Oklahoma that knew what my plexiform was much less able to treat it. I have been going to Washington University In St. Louis for my treatment. They have a Neurofibromatisis center there. I also found an AMAZING plastic surgeon in Houston TX that did decompression surgery and reduced my pain tremendously.
I have NF1, and I have just been told by the hospital doctor, that they won’t do the operation to remove it. I’m in pain all the time. He said I need stronger pain killers. Is there anything I can do, apart from taking tablets all the time. Please help.
Brian, I think you need a good doctor that’s familiar with NF and take their advice regarding surgery. They can be difficult to remove. But you shouldn’t give up and you should keep going back. Not wanting to do surgery now, doesn’t mean that they don’t do it later or that something else might come up. In the meantime, some people have found relief with consistent use of CBD oil or cannabis. Also, I don’t know what class of drugs you’re on, but certain types of drugs, such as anticonvulsants, may be more effective. Here’s an article that might help. https://www.nfmidwest.org/blog/be-informed-pain-in-neurofibromatosis-1/
Are you going to a dermatologist and asking them to remove them?
Brian may have plexiform tumors that are causing pain and they often can’t easily be removed without causing more damage.
Ohh great, Very helpful. Thanks for sharing this info in such a detailed manner.
My wife experiences her legs and feet to lock up like a cramp a all night , most nights ; she has NF . No doctors are helping with the condition other than saying take magnesium and vitamin B and baclofen. Nothing helps
Bob, Where sorry to hear about your wife. Where are you located? Please email us at .
I have NF lumps all over my torso stomach and back, the ones on my stomach have a painful pinching sensation I felt like I have sharp pins stuck in me is this normal?
Zahra, yes some can cause pain. It’s important to see a doctor and let them know.
I have NF1 and have had constant knee, heel, and ankle pain for the past 7 months about. What’s happening? Is the pain related to NF1 or not?
Rachel, please email us at . You should see an NF doc if possible or see your primary. We’d like to know where you live.
My grand daughter is 17 years old. We do not have NF doctors in my country. The past one month she has been in a lot of pain in her left leg near the knee joint. All the pain killers seem to work for few minutes. She seems sad and frustrated about it. What can help relieve the pain?
Martha, We’re so sorry for your troubles! Even if you don’t have NF doctors there should be doctors who can help. Keep going to the doctors until you find one. It’s important that pain in NF is evaluated and continues to be evaluated.
I’ve been experiencing the same thing. IDK what to do.
My daughter is 11 and has had sevear stomach pain going on 3 weeks, first the doctors said it was gas then they said it was a possible ulcer which they are treating her for and she has no relief..
Cheryl, Where do you live and are you seeing an experienced NF doctor? We’d love to help to make sure you are connected to good care.
Nice Blog, thanks to share this great blog…
Thank you Keith!
I live in erin tn I can’t get any help at all I am in lots of pain no health insurance no in come to even pay for the doctors getting lightheaded don’t eat the pain is out of control the er won’t help please can someone help I live near clarksville tn
Theresa, We’re very sorry to hear about your pain. My daughter lives with pain as well. Have you applied for Medicaid or assistance for insurance? Have you reached out to the Dept of Human Services or other agencies? Do you have an NF doc? We don’t cover Tennesee, but we can see if there is someone there that may be able to guide you.
I have tried they turn me down for ss I have very bad lower abdomen pain last ersaid I had soft tissue nodule my Emil is [redacted] if u know of anyone here could help me
Theresa, we contacted you privately about this.
I’m very sorry for your pain and understand your frustrations. If you have a good NF doctor they may be able to come up with other options.
I was taking off of my 100 fentanyl last year due to new laws at cbc doo that hardly helped now I’m on 25fentanyyl and I get lyrica and120 Percocet NONETHING Helps my Dr of 20 years is gone and new dr knows little of what’s going on the point is I am done I’m tired of being in pain because other people did wrong I go to the same Cvs I take my little bit of medicine why can they make me suffer because of people who break rules?
I’m Aaron Weaver, I have been living withNF1 for 30 yrs with little help do to the fact most family’s doctors don’t know about NF. I’m at the point in life I have TRIED yoga, running,mind over matters thinking .I don’t know what to do any more PLEASE let me know if you can help..
Aaron, where do you live? If you want to see if we have any more suggestions you can sign up at http://www.nfmidwest.org/contact. If you’re not in our area though we will be limited in what we can do. Also, have you tried acupuncture. We’ve been told this can help and some find cannabis to be of help. Don’t give up. Keep going to a doctor.
Thank you for writing back and yes I did acupuncture. 5 time. With only 2 to 4 hours minimal relieve.the pain come right back I need help please if you can call me [REDACTED]
Aaron, we called and left a message