Overview

Neurofibromatosis type 2 (NF2) is a genetic condition that causes tumours to grow along your nerves. The tumours are usually non-cancerous (benign) but may cause a range of symptoms.

Neurofibromatosis type 1 (NF1) is covered separately because it has different symptoms and causes. It's also much more common than NF2.

Symptoms of neurofibromatosis type 2

Almost everyone with NF2 develops tumours along the nerves responsible for hearing and balance. These usually cause symptoms such as:

• hearing loss that gradually gets worse over time
• hearing ringing or buzzing in the ears (tinnitus)
• balance problems – particularly when moving in the dark or walking on uneven ground

You can also get other tumours inside the brain or spinal cord, or along the nerves to the arms and legs. This can lead to symptoms such as weakness in the arms and legs, and persistent headaches.

Causes of neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is caused by a faulty gene. If the NF2 gene is faulty, it leads to uncontrolled growths (tumours) developing in the nervous system.

In half of all cases of NF2, the faulty gene is passed from a parent to their child. Only 1 parent needs to have the faulty gene for their child to be at risk of developing the condition.

If either the mother or father has the faulty gene, there's a 1 in 2 chance that each child they have will develop NF2.

In other cases, the faulty gene appears to develop spontaneously. It's unclear why this happens.

If you have a child who develops NF2 spontaneously, it's highly unlikely any further children you have will also develop the condition. However, a person who develops NF2 spontaneously can pass the condition to their children.

Mosaic NF2

About 1 in 3 people with NF2 have a form of the disease called mosaic NF2. The symptoms of mosaic NF2 are milder and often restricted to a certain area or side of the body.

People with mosaic NF2 have lower than the usual 50% risk of having a child with NF2. However, if their child does have NF2, it will be the more common type and not mosaic NF2.

Diagnosing neurofibromatosis type 2

It's usually easy to diagnose NF2 in adults and older children by checking for the typical symptoms.

It may be diagnosed in babies who show symptoms of NF2 from birth. However, it's not always possible to make a firm diagnosis before a child is 5 years old because some symptoms take years to develop.

If NF2 is suspected, further tests – such as scans, hearing tests, sight tests or blood tests – may be recommended. This is to assess whether your child has other symptoms or conditions associated with NF2.

If there's uncertainty about the diagnosis, your child may be able to have a blood test to see whether they have the faulty NF2 gene. However, the test isn't completely reliable and may not find an alteration in the NF2 gene in all people with NF2 symptoms.

Before and during pregnancy

Couples with a family history of NF2 may wish to consider their options before having a baby. Your GP can refer you to a genetic counsellor to discuss your options, which may include:

• having a child with a donor egg or sperm
• adopting a child
• having a test during pregnancy – either chorionic villus sampling or amniocentesis to see if your baby will have NF2
• pre-implantation genetic diagnosis – where eggs are fertilised and tested in a laboratory, and only eggs without the faulty NF2 gene are implanted in the womb.

Treatment for neurofibromatosis type 2

There's currently no cure for NF2. Treatment involves regular monitoring and treating any problems as they occur.

Surgery can be used to remove most tumours, although it carries a risk of causing problems, such as complete deafness or facial weakness. Therefore, the risks and potential benefits need to be carefully considered before treatment.

Most people with NF2 eventually develop significant hearing loss and often benefit from using a hearing aid or learning to lip read. Special implants can sometimes be inserted to improve a person's hearing.

NF2 tends to get worse over time, although the speed at which this happens varies considerably. However, most people with NF2 eventually lose their hearing completely, and some people require a wheelchair or other type of mobility device.

Tumours developing inside the brain and spinal cord can place a strain on the body and shorten life expectancy.

Support from Nerve Tumours UK

Nerve Tumours UK is a charity that aims to improve the lives of people with either type of neurofibromatosis.

For more information, you can visit the Nerve Tumours UK website, call its helpline on 07939 046 030 or email info@nervetumours.org.uk.

Information about you

If you or your child has NF2, your clinical team will pass information about you/your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for better ways to prevent and treat this condition.

You can opt out of the register at any time.

Find out more about the register.

Symptoms

The symptoms of neurofibromatosis type 2 (NF2) typically start during the late teens or early twenties, but they may develop at any age.

Most of the problems are caused by non-cancerous (benign) tumours growing in various part of the body.

Ear problems

Most people with NF2 develop non-cancerous tumours along the nerves used by the brain to help with hearing and balance. The tumours are known as vestibular schwannomas and can cause problems such as:

• hearing loss that gradually gets worse over time
• a constant ringing or buzzing sound (tinnitus)
• balance problems, such as feeling dizzy – usually made worse by walking on uneven ground or moving around in the dark

The tumours tend to only cause problems in one ear at first, but both ears are often affected eventually.

Less common symptoms include vertigo – when it feels like you or everything around you is spinning – nausea and vomiting.

It's likely the tumours will grow larger over time, eventually causing additional symptoms such as:

• numbness in parts of your face
• weakness of your tongue – this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia)
• facial pain – although this is less common

Cataracts

About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts).

Cataracts can make a person's vision blurred or misty. However, they're usually mild in NF2 and rarely cause serious vision problems.

Cataracts are normally associated with old age, but they can develop in children and young adults with NF2.

Skin problems

Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas.

They often take the form of skin plaques: small, coloured, raised patches of skin, usually less than 2cm across.

Tumours that develop under the skin can grow to around the size of a golf ball and can be painful if they develop along a section of nerves.

Some people with NF2 may also develop a small number of coffee-coloured patches on their skin, called café au lait spots. But having lots of these spots is usually a sign of neurofibromatosis type 1 (NF1).

Peripheral neuropathy

Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including:

• pins and needles in the affected body part
• numbness and a reduced ability to feel pain or temperature changes – particularly in your feet
• a burning pain – usually in the feet and legs, followed by the hands and arms as the neuropathy progresses
• muscle weakness

Brain problems

Around 1 in 2 people with NF2 develop one or more benign tumours inside their brain. These are called meningiomas.

Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as:

• headaches
• vomiting
• seizures (fits)
• vision disturbances – such as double vision

The tumours can also disrupt certain brain functions. Depending on where they are, they may cause:

• personality changes
• weakness or numbness in one side of the body
• difficulty speaking, understanding words, writing and reading (aphasia)
• vision problems
• fits or blackouts
• memory problems
• a loss of smell (anosmia) or a sensation of strange smells (phantosmia)
• unsteadiness, loss of co-ordination and difficulty walking
• difficulty speaking and swallowing

Spinal cord problems

Around 1 in 2 people with NF2 develop one or more benign tumours inside their spinal cord. These are called ependymomas.

Of those who develop ependymomas, about half won't have any noticeable symptoms. But those who do may experience:

• back pain
• muscle weakness
• unpleasant physical sensations in certain parts of the body – such as numbness, tingling, or a "crawling" sensation on the skin

Treatment

Treatment for neurofibromatosis type 2 (NF2) involves regular monitoring. Any problems are treated by a team of health professionals.

Because of the rarity of NF2, the NHS has created 4 specialist centres where healthcare professionals with expertise in treating the condition are based.

The specialist centres are located at:

• Guy's and St Thomas' NHS Foundation Trust in London
• Addenbrooke's Hospital in Cambridge
• Central Manchester University Hospitals
• Oxford University Hospitals Trust

If you're diagnosed with NF2, you'll usually be referred to one of these centres so a treatment plan can be drawn up.

Monitoring

Everyone with NF2 requires regular monitoring to check for signs of any problems developing and to arrange treatment if necessary.

Monitoring NF2 usually involves:

• annual MRI scans to check whether any new tumours have developed and whether any existing tumours have grown larger
• annual eye tests to check for cloudy patches at the front of the eye (cataracts)
• annual hearing tests to check the extent of any hearing loss

Depending on your symptoms, more-frequent tests may sometimes be required.

Contact your specialist centre if any new symptoms develop between examinations or if existing symptoms get worse.

Treating tumours

The growth of tumours is one of the main problems associated with NF2. It's not always obvious what the best treatment is.

Many tumours are small and may not grow large enough to cause any problems, but others can be large and significantly affect your life.

You should discuss the best option for you with your care team before deciding on a treatment.

Surgery

It's possible to surgically remove some tumours, but the risks can often outweigh the benefits.

For example, removing tumours from the nerve tissue next to your ears could further damage your hearing and cause paralysis of your facial muscles.

Removing tumours from the spinal cord carries a small risk of damaging the spinal cord, which could cause some degree of paralysis.

However, in some cases, surgery may be required to prevent potentially serious complications, such as a tumour growing so large there's a risk it may damage your brain.

Radiotherapy

For smaller tumours, a type of radiotherapy known as the "gamma knife" may be an option. No actual knife is involved – rather, a tightly focused beam of gamma radiation is used to shrink a tumour.

As with surgery, this treatment carries some risks. There's a possibility the gamma radiation could result in any new tumours becoming cancerous. The chances of this are thought to be quite small, but it needs to be considered when weighing up your treatment options.

Treating hearing problems

If you have NF2, it's likely your hearing will get worse over time, so you may benefit from a hearing aid or learning to lip read.

Hearing aids

One option may be a surgically implanted electrical device called a hearing implant. There are 2 types of hearing implant used in NF2:

• cochlear implants
• auditory brainstem implants (ABIs)

Cochlear implants and ABIs have an external microphone that receives and processes sounds. These signals are passed into an internal receiver before being carried through wires to electrodes either in the cochlea (the coiled, spiral tube inside the inner ear) or the brainstem.

If you have an ABI fitted, the surgeon will first remove any tumours from the hearing nerves. The implants restore only some degree of hearing, but they can make lip reading easier.

As with all types of surgery, there's a risk of complications. Some can be serious, such as infection of the outer layer of the brain (meningitis). These risks need to be considered when deciding the best way to manage your hearing problems.

Lip reading

Another option is learning to lip read. Your treatment centre should be able to recommend a hearing therapist or another healthcare professional qualified to teach lip reading.

Treating other problems

NF2 can also cause several other health problems that require different treatments. For example:

• childhood cataracts – usually treated with surgery to replace the cloudy lens with an artificial one
• peripheral neuropathy – usually treated with medication
• tinnitus – this may be treated with various therapies, such as tinnitus retraining therapy to help you tune out the constant buzzing or ringing noise