Prevention, Prognosis and Follow Up of Von Recklinghausen’s Disease / Neurofibromatosis
Prevention of Von Recklinghausen’s Disease/Neurofibromatosis Type 1
It is not possible to completely prevent a genetic defect / mutations caused in NF genes.
Genetic counseling is useful in progressive Von Recklinghausen's disease and in prevention. It is recommended to visit a genetic counselor before having children if you or any of your siblings have the condition. A genetic counselor can explain the odds of your child inheriting the disease.
The symptoms may appear slowly in certain cases while quickly in others. Complications like hypertension need to be managed so as to prevent further disruption (because hypertension itself breeds a multitude of ailments).
Prenatal tests like amnio centesis, chorionic villus sampling can be performed on the fetus.
Prognosis of Von Recklinghausen’s Disease/Neurofibromatosis Type 1
Prognosis is variable. Tumors destroy nerves and surrounding tissues. This may lead to blindness, deafness, loss of balance and coordination. Deformities of the bones and spines also walk in.
Follow-up of Von Recklinghausen’s Disease/Neurofibromatosis Type
The following are the recommendations of the American Academy of Pediatrics Committee on Genetics for monitoring children with Neurofibromatosis:
- Annual physical examinations and ophthalmologic evaluations
- Audiologic examination before the child is of school age.
- Language and speech evaluation
- Examination for the presence of scoliosis
- Blood pressure measurement at least once per year
It is important that patients should be continuously monitored for growth, change, or pain in their neurofibroma. Any of these features if present could be a sign of malignant transformation and hence shouldn’t be missed. Lesions should be given for biopsies. Careful surveillance and neurological examination is important.
