Neurofibromatosis Type 2 (NF2) is a genetic condition that causes tumours to grow along the nerves within the body. These tumours are usually non-cancerous and slow growing. In NF2, tumours develop along the nerves which are responsible for hearing and balance therefore symptoms of NF2 include gradual hearing loss, tinnitus (ringing in the ear) and balance problems.
NF2 is a rare condition, accounting for only 3% of all neurofibromatoses. However, despite its rarity, specialised services are available to provide comprehensive care for NF2 patients.
In England, there are four specialist centres equipped with teams of healthcare professionals with expertise in treating NF2. Manchester University NHS Foundation Trust hosts one of those centres. At the centre, patients can receive expert diagnosis using MRI scans, auditory brainstem response (ABR) testing to check the function of the hearing nerves, and genetic testing for confirmation of NF2 mutations.
The NF2 clinics are staffed with neurologists, ENT specialists, physiotherapists and genetic counsellors who provide a personalised treatment plan for each patient. Patients and their families will have access to genetic counselling and psychological support to help them with living with NF2. Management of NF2 will depend on the size, location and symptoms experienced. Non-surgical options may include hearing aids, lip reading lessons, and physiotherapy for balance issues. Surgery may be an option for some patients; however, the risks can often outweigh the benefits. Therefore, if surgery is considered, clinicians will extensively discuss this option with the patient.
This service is available for adults and children.
Credits:
Ines Djedje – University of Mancheser 5th year medical student
Sources:
- Neurofibromatosis type 2 – NHS (www.nhs.uk)
- Asthagiri, Ashok R et al. “Neurofibromatosis type 2.” Lancet (London, England) vol. 373,9679 (2009): 1974-86. doi:10.1016/S0140-6736(09)60259-2
- Kresak, Jesse Lee, and Meggen Walsh. “Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis.” Journal of pediatric genetics vol. 5,2 (2016): 98-104. doi:10.1055/s-0036-1579766