Is the neurofibroma genetic
BVNF: Neurofibromatosis is a little known condition and many people with neurofibromatosis take years to make the correct diagnosis. Why is that?
Prof. Dr. Victor-Felix Mautner: Although neurofibromatoses occur at least as frequently as Down syndrome, neurofibromatoses type 1 and type 2 (NF1 and NF2) are much less well anchored in the minds of doctors and the general public because they are diseases with many "faces" (symptoms) acts that are very variable in their appearance. It usually takes a few years from the suspicion of neurofibromatosis, which is present when there are many café-au-lait spots, to the appearance of the frequent second symptom, the "freckles" in the armpits. During this period, the child must therefore be monitored for all possible associated characteristics, which, however, have not yet been sufficiently present in the consciousness of the doctors.
After all, there are a large number of patients who are not diagnosed until serious problems arise.
BVNF: A distinction is made between the two diseases neurofibromatosis type 1 and type 2. What are the typical symptoms of each disease?
Prof. Mautner: NF1 and NF2 are usually characterized by the occurrence of age-related symptoms: In childhood there is a general or partial developmental delay, motor movements appear clumsy (clumsy) and awkward, balance disorders can be noticed, for example, when learning to ride a bicycle. Often the children have difficulty translating thoughtfully prepared processes into practical action. Learning disabilities are seen in up to 50% of children with NF. On the other hand, tumor formation in the area of the optic nerve (optic glioma), curvature of the spine (scoliosis) or false joint formation (pseudarthrosis) play a relatively minor role in terms of numbers, although these changes can be more serious.
In adolescence and adulthood, the most prominent symptoms are undoubtedly neurofibromas of the skin. This is why the term "peripheral form" was used earlier, because NF1 is characterized by tumor formation in the peripheral nerves. However, this designation is incorrect, as NF1 sufferers can have tumors in the central nervous system (spine and brain) in childhood, adolescence and adulthood.
In contrast, NF2 is characterized by the occurrence of tumors in the central nervous system. Children with NF2 often have schwannomas of the skin and ophthalmological symptoms (ametropia and strabismus) as initial symptoms. Between the ages of 10 and 25, clinical complaints occur due to the formation of tumors in the area of the auditory nerves, such as dizziness, balance disorders or hearing impairment.
BVNF: Which problems / symptoms are most troublesome for patients with neurofibromatosis type 1 or neurofibromatosis type 2?
Prof. Mautner: Neurofibromatosis type 1 is a disease that was previously unpredictable in its course. This is a great challenge and burden for those affected and their relatives.
There is undoubtedly a large number of people who have the genetic modification of the NF1 gene without any significant health restrictions. It can be said that around 60% of those affected have no serious health problems, 20% have manageable health problems and 20% cannot be treated successfully.
Learning difficulties and motor deficits are the most common stress factors for children and their families. On the other hand, tumors in the area of the visual pathway, plexiform neurofibromas or scoliosis (curvature of the spine) occur less often, but they can be of much greater significance for those affected. In adulthood, the growth of skin neurofibromas is the most common stress factor.
For neurofibromatosis type 2, clinical symptoms usually only appear after puberty, when the first symptoms appear due to the slow growth of the auditory nerve tumors. For NF2 sufferers, the many tumors in the brain and spine, which can lead to numbness, loss of cranial nerve functions and paraplegia, and the associated repeated operations are undoubtedly the main stress factors.
BVNF: Neurofibromatoses are one of the hereditary diseases. What is the risk that the child of a mother with neurofibromatosis and a healthy father will also develop neurofibromatosis?
Prof. Mautner: The incidence of the disease is around 1: 3000 to 1: 4000. This means that every 3,000 to 4,000th child in the population is a so-called carrier of genetic misinformation. If a parent has this misinformation, there is a 50% risk of passing it on. According to a recent study in Germany, genetic misinformation (NF1) occurs with a frequency of 1: 2900.
BVNF: How can it be explained that neurofibromatosis shows such different forms - even within a family?
Prof. Mautner: The most likely cause of this phenomenon is now considered to be the existence of genetic interactions. This means that the actual genetic misinformation (mutation on chromosome 17 for NF1) can be changed in its function by other genetic information. In addition, a so-called mosaic formation is also observed in NF1 and NF2: here the genetic misinformation does not occur in all body cells. If only a small part of the body's cells is affected, the signs of the disease may also be mild.
BVNF: A young woman with neurofibromatosis type 1 comes to you and wants to know what risks she and her child must expect in the event of a potential pregnancy. What are you telling her?
Prof. Mautner: There is no increased risk of pregnancy for women affected by NF1 or NF2 compared to the general population. However, a slightly higher rate of miscarriages cannot be ruled out. Pregnancy can rarely be complicated by the formation of tumors in the small pelvis (abdomen) if neurofibroma growth can be demonstrated here before the start of pregnancy.
Another stress factor for pregnant women is the possible increased incidence of neurofibromas of the skin.
BVNF: Cure is not yet possible in neurofibromatoses. How can the physical changes of the affected patients be treated?
Prof. Mautner: Neurofibromas can usually be removed with careful cosmetic plastic intervention with little scarring. This also applies in part to the so-called plexiform neurofibromas, which, however, are only operable to a limited extent in an organ-preserving manner in the case of infiltrative, i.e. deeply inwardly penetrating growth. Complications such as scoliosis, optic gliomas or tumors of the adrenal gland must be treated surgically or with other suitable measures by doctors in the respective specialist fields.
BVNF: Neurofibromatosis sufferers not only have physical symptoms, many children and adolescents also suffer from learning difficulties, psychomotor developmental delays and / or what is known as attention deficit syndrome (ADD / ADHD). How can these disorders be treated?
Prof. Mautner: The treatment of such a disorder begins with its definition, assessment and classification.
Does the child have what is known as a global developmental delay? In this case, not only are the milestones of physical development delayed, but also the mental development level. Is it really a deficit in maturation? What intellectual capacities does a child have? Which positive traits and abilities can be observed? Is there also a linguistic disorder? Is there a so-called attention disorder?
If these questions are adequately answered, a diagnostic assessment can be made and appropriate therapies can be assigned.
Occupational therapy, psychomotor training and / or physiotherapy are ways to improve the networking of processes in the brain with the executive organs. Sports training such as trampoline jumping and dumbbell work are helpful for activating the muscles when there is insufficient muscle tension (muscle hypotonia). Speech therapy to train language skills is useful. Attention disorders can be treated with behavioral training or stimulant therapy.
BVNF: What topics is current neurofibromatosis research dealing with?
Prof. Mautner: Neurofibromatosis research today takes place in various areas, levels and in collaboration with the most varied of disciplines.
Clinical symptoms and their development can only be understood if the results of the study of large patient groups are brought together. This is currently happening in large international studies. One example is the recording of the growth behavior of the plexiform neurofibromas, which are measured radiologically over many years. This also applies to acoustic neuromas, which have been documented in their growth for several years. Studies of this kind are the basis for carrying out drug studies, because in these the natural growth process of the tumors is recorded quantitatively for the first time. For example, the effectiveness of two medicinal substances for the treatment of plexiform neurofibromas is currently being tested in the USA.
On the genetic side, work is continuing to fully record the genetic changes in the NF1 and NF2 genes and to relate them to the clinical expression of the characteristics. After all, efforts to improve genetic diagnostics and make it more efficient continue to play a major role.
Cell biological studies have found a permanent place in both NF1 and NF2. These allow the investigation of the interplay of the different cell types, their abnormalities and the examination of drug treatment options. From a biochemical point of view, the aim is to better understand the function of the NF1 and NF2 genes and thus also the gene products.
BVNF: Are there any scientific findings that could lead to new, possibly causal, therapeutic approaches? What role will gene therapy play in the future?
Prof. Mautner: The available therapeutic approaches each relate to the individual symptoms of neurofibromatosis. Treatment options are still mostly surgical in nature today. The only convincing and verified effective drug therapy relates to childhood stimulant attention deficit disorder. Drug therapy approaches are currently being tested for patients with plexiform neurofibromas in children and adults. Causal therapies, that is, those that tackle the disease "at the root of the problem", have been considered. It is currently not possible to say with any certainty when these will be checked. For example, a method for correcting the genetic misinformation in NF1 and NF2 is being tested as a conclusive therapeutic approach, but further improvement of the method is required in order to achieve the hoped-for treatment success.
BVNF: You are honorary chairman of the Federal Association for Neurofibromatosis, which is committed to improving medical and psychosocial care for NF patients and also promotes NF research. What kind of support would you like for the BVNF?
Prof. Mautner: In the past decade, the Federal Association for Neurofibromatosis has succeeded in creating and distributing information material about NF for those affected and for doctors. The infrastructure of clinical care is quite well established in Germany, although it does not cover the whole of Eastern Germany. Self-help activities, contact offices, annual meetings and seminars provide the framework for further training and the exchange of information. There is no question that parents with affected children and affected adults continue to experience odysseys until they have access to appropriate information and get into the hands of doctors who have experience in the care of patients with NF.
We still need support as we move towards overcoming this problem. The professionalization of public relations work and improved sponsoring are essential elements that can only be expanded to a limited extent on your own. The Federal Association for Neurofibromatosis is today in a modest position to support itself. Research activities - as stipulated in the statutes - can only be supported to a very limited extent. We would very much like to see more contributions promoting these concerns.
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