Neurofibromatosis (NF) is a condition in which tumors develop in the brain, spinal cord, and nerves. Typically, neurofibromatosis is not cancerous. There are three types of this condition. Prevalence of type 1(NF1) is more in childhood; whereas the other two types (NF 2 and schwannomatosis occur in adolescents. NF type 1 can cause bone deformities, learning disabilities, and high blood pressure. Hearing loss, vision loss, and difficulty with balance occur typically in patients with NF type 2. Schwannomatosis can cause chronic pain throughout the body[1].
What is the scope of treatment in NF?
There is currently no medical or surgical treatment that can reverse or prevent neurofibromatosis-related consequences or cure the condition. This largely reflects our ongoing ignorance of fundamental biological processes regarding the gene mutation effects of neurofibromatosis that affect the body. Hence, there is a need for further research to provide efficient therapeutic strategies.
Current treatment scenario in NF
Medical care for neurofibromatosis is now restricted to the early diagnosis of treatable consequences. In this context, treatment includes diagnosis and management of learning difficulties, surgery to remove or shrink neurofibromas, etc. In general, early detection of the symptoms and immediate management can enhance the effectiveness of treatment.
A complete medical examination of the patient with neurofibromatosis is generally advised.
This should be carried out by a clinician who is knowledgeable about neurofibromatosis and has access to qualified medical consultants to assist with any issues discovered.
A medical history, physical examination, neurological examination, and eye examination typically make up the medical evaluation. Any alteration in the neurofibromatosis skin symptoms, particularly any growth or discomfort in a neurofibroma, is closely monitored.
Any new symptoms or indicators should be looked into. It is important to talk about the child's growth, academic achievement, and cognitive abilities.
This treatment protocol should be followed for a patient with a confirmed diagnosis of neurofibromatosis as well as for a youngster with multiple cafe-au-lait spots who have the suspected but not a confirmed diagnosis of neurofibromatosis. Such a youngster should be treated as though they have neurofibromatosis since they may be at risk of acquiring issues linked to the condition[2].
Is imaging required in NF?
It is sometimes questioned whether all individuals with neurofibromatosis should get X-rays, CT scans, or MRI scans. This question does not have a single "right answer." It is generally accepted that any indications of neurological issues should be thoroughly explored, which frequently entails getting a CT or MRI of the head region. In the absence of warning indications or symptoms of neurological deterioration, the utility of such a scan is less obvious. Some medical professionals like to have a full picture of how NF has affected a patient. Others believe that scanning is not necessary when there are no symptoms or warning signals of a problem because no "treatable" conditions would be discovered then. The family and the clinician should have an open discussion regarding the advantages and disadvantages of screening tests. This talk should probably take precedence over trying to reach a consensus on the subject[3].
What is the prognosis for NF?
True to its name, neurofibromatosis is an unpredictable condition. Even within a single family, the intensity varies greatly from one person to the other. Some people live their lives with only a few skin lumps and blemishes and may not even be aware that they are affected. Others may experience severe cosmetic or medical issues as a result of NF, and these issues could manifest at any stage of life, including at birth.
Although a person with neurofibromatosis may experience a wide range of symptoms, almost no one with the condition experiences all of the potential consequences, and the majority of the severe ones are, on their own, quite uncommon. Of course, each person will have a different definition of what constitutes a "serious" condition. However, people with NF1 may have a healthy, productive life without experiencing any life-threatening consequences. The disorder will have some cosmetic effects on many people, although in many cases, this is manageable.
Living with this condition requires some adjustments in existing medical conditions like joint pain due to the involvement of muscles, vision problems due to nodules on eyes, painful plexiform neurofibromas. Patients should be cautious and check whether all the signs and symptoms of NF1 will appear, if so should keep an eye on when and where they will arise and how to treat them. The focus should be to identify early and help them to prevent aggrevation.
Nothing is forever
Neurofibromatosis cannot be cured completely but can be managed effectively if diagnosed at an early stage of the disease. Symptomatic treatment with the help of pharmacological agents and surgery, supportive care from supportive groups, physical therapy like home exercise programs and postural stability to reduce joint pain, rehabilitation with hearing aids, wheel chairs etc; will improve the patients quality of life to a certain extent. With the help of all these measures, slowly the patient might recover from the signs and symptoms and starts living a normal life. Though it cannot be prevented completely, to detect the risk of transmission of the disease to their offspring, people with a family history of this condition need to undergo genetic testing and counseling [4].
References
S. Farschtschi, V.-F. Mautner, A. Cecilia Lawson McLean, A. Schulz, R. Friedrich, and S. K. Rosahl, “The Neurofibromatoses,” Dtsch Arztebl Int, vol. 117, no. 20, pp. 354–360, May 2020, doi: 10.3238/arztebl.2020.0354.
T. Karaconji, E. Whist, R. V. Jamieson, M. P. Flaherty, and J. R. B. Grigg, “Neurofibromatosis Type 1: Review and Update on Emerging Therapies,” Asia Pac J Ophthalmol (Phila), vol. 8, no. 1, pp. 62–72, Feb. 2019, doi: 10.22608/APO.2018182.
S. Ahlawat, J. O. Blakeley, S. Langmead, A. J. Belzberg, and L. M. Fayad, “Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis,” Skeletal Radiol, vol. 49, no. 2, pp. 199–219, Feb. 2020, doi: 10.1007/s00256-019-03290-1.
B. N. Wilson, A. M. John, M. Z. Handler, and R. A. Schwartz, “Neurofibromatosis type 1: New developments in genetics and treatment,” J Am Acad Dermatol, vol. 84, no. 6, pp. 1667–1676, Jun. 2021, doi: 10.1016/j.jaad.2020.07.105.
