Introduction
Neurofibromatosis is the general name for a number of genetic conditions that cause tumours to grow along your nerves.
Tumours are abnormal tissue growths. In neurofibromatosis, the tumours are usually non-cancerous (benign).
Neurofibromatosis type 2 (NF2) is less common than NF1, affecting about 1 in 33,000 people.
What are the symptoms of NF2?
NF2 is characterised by benign tumours that occur within the body, in particular on both balance nerves (known as vestibular schwannomas or acoustic neuromas).
These typically cause symptoms such as:
- hearing loss, that usually gets worse over time
- ringing or buzzing in the ears (tinnitus)
- balance problems, particularly when moving in the dark or walking on uneven ground
Other benign tumours can also develop inside the brain or spinal cord, and under the skin. This can cause symptoms such as weakness in the arms and legs, pain and headaches. Some people with NF2 also have cataracts or problems with vision from a young age.
What is the cause?
NF2 is a rare disease caused by a misprint of one of our genes. It is present from birth but signs of the disease do not usually appear until several years later.
In some cases, you may be the first person in your family to be diagnosed with NF2 or in other cases you may be aware of other people within your family who also have the condition,
If you have NF2 and are planning on starting a family, speak to your genetic counsellor who will be able to advise you about the options available to you.
The NF2 Service
The Queen Elizabeth Hospital has a Multi-disciplinary Team (MDT) in place to look after patients from initial diagnosis to on-going care /surveillance. Clinics take place six times per year and are run in conjunction with the NF2 team based at Addenbrooke’s Hospital in Cambridge. A paediatric clinic is also held three times per year at Birmingham Children’s Hospital.
We are also able to arrange appointments for you with the plastic surgery team and the eye team and can refer you for physiotherapy or psychological support if needed.
Please discuss this with the team at your appointment.
Management of NF2
There is currently no cure for NF2. Treatment involves regular monitoring and treating any problems as they occur.
You will need regular hearing and neurological assessments, scans of the brain and spine, balance tests and eye examinations. Many of the tumours seen on scans in NF2 may never grow enough to cause symptoms and can be managed with regular check-ups.
Occasionally it is necessary to remove a growing tumour to prevent serious complications or to maintain the nerve function. The decision to operate is taken very seriously and is made after a lengthy team discussion and only after the agreement of the patient and their family.
The most common operation for those with NF2 is excision of a vestibular schwannoma and you will be provided with full information about the surgery should this be necessary for you.
Neurofibromas (tumours on the surface of the skin) rarely cause problems but can be uncomfortable. If you are experiencing pain or discomfort, these can often be removed.
Bevacizumab (Avastin)
In 2009, some research was published in the USA about how Bevacizumab had been shown to help some people with NF2, by reducing the size of vestibular schwannomas and in some cases improving hearing. This has been supported with further research in the UK. Bevacizumab has currently been funded for treatment by the National Specialised Commissioning Team (NSCT) provided that strict criteria are met. We can discuss this with you in your outpatient appointment if you would like more details.
Hearing Loss
Most people with NF2 eventually develop significant hearing loss and often benefit from learning to lip read or using a hearing aid. Special hearing implants can sometimes be inserted to improve a person's hearing. These are cochlear implants or auditory brainstem implants. Please ask your team for more details.
How to contact the service
Tracey Plant – Medical Secretary
Email: Tracey.Plant@uhb.nhs.uk
Tel: 0121 371 4511
Last reviewed: 06 June 2023