Tuberous sclerosis - Treating tuberous sclerosis

Tuberous sclerosis is a lifelong condition that requires long-term care and support from a range of different healthcare professionals.

An individual care plan will be drawn up to address any needs or problems that your child has. As your child gets older, the plan will be reassessed to accommodate changes to their needs or situation.

Healthcare professionals

You and your child will also be assigned a key worker, who will be your point of contact with the various support services available. While your child is young, the key worker is likely to be a health visitor. However, as your child gets older and their needs become more complex, the key worker is likely to be a social worker.

Some of the other healthcare professionals involved in your or your child's care may include: 

• an educational psychologist – who assists children having trouble progressing with their education as a result of emotional, psychological or behavioural problems
• a neurologist – a specialist in treating conditions affecting the nervous system (the brain, nerves and spinal cord)
• a cardiologist – a specialist in conditions that affect the heart 
• an ophthalmologist – a medical doctor specialising in eye conditions
• a genetic counsellor – to assess the risk of passing a genetic condition on to your children

Surveillance screening

Someone with tuberous sclerosis will require regular surveillance screening tests throughout their life. This is so the function of the organs most vulnerable to the condition, such as the brain, kidneys and lungs, can be regularly monitored and assessed.

Types of screening tests may include:

• a magnetic resonance imaging (MRI) scan – to check for changes in tumours in the brain or kidneys
• an ultrasound scan – this may also be used to check the kidney tumours
• blood tests – to check how well the kidneys are working 
• an echocardiogram – a test that uses sound waves to build up a picture of the heart
• spirometry – a test to measure how much air a person can breathe out, and to check the function of the lungs

How often these tests are needed will depend on your or your child's age and the type of symptoms.

Epilepsy

Epilepsy is a very common feature of tuberous sclerosis. A number of medications known as anti-epileptic drugs (AEDs) have proved successful in preventing seizures in people with epilepsy.

Epilepsy medicines do not work as well for people with tuberous sclerosis, although many people with the condition can use them to control their seizures. If the first epilepsy medicine is not effective, the dose can be increased. You can also try a different medicine, or you may be prescribed two epilepsy medicines to take at once. 

Surgery for epilepsy

If epilepsy medicines are not effective, surgery for epilepsy may be considered.

In people with tuberous sclerosis, epilepsy is thought to be caused by tumours in the brain (epileptogenic tubers). You can have surgery to remove them, which may be an effective treatment for your epilepsy.

This type of surgery tends to be more successful if there are just one or two tumours. One study found more than two-thirds of children were seizure-free after having surgery.

However, not everyone with tuberous sclerosis is suitable for surgery. In some cases, no brain tumours can be found to explain the epilepsy.

Vagus nerve stimulation

An alternative to surgery for epilepsy is a treatment called vagus nerve stimulation (VNS). VNS involves surgically implanting a small electrical device similar to a pacemaker under the skin near the collarbone.

The device has a lead that is wrapped around the vagus nerve in the left side of the neck. The device stimulates the nerve by passing a regular dose of electricity through it. This can reduce the frequency and severity of the seizures.

If you feel the warning signs of a seizure, you can also activate an extra "burst" of stimulation. This can often prevent the seizure happening.

It is not fully understood exactly how and why VNS works, but it is thought that stimulating the vagus nerve alters chemical transmissions in the brain.

Read more about treatments for epilepsy for more information about these and other treatments, such as the ketogenic diet.

Behavioural and learning problems 

If your child is experiencing behavioural problems or has a learning disability, it is likely they will be referred to a psychologist. They will assess your child's learning ability and their likelihood of developing behavioural problems.

As part of the assessment process, a special educational needs plan may be drawn up. The plan is designed to provide the most effective type of education to meet your child's strengths and weaknesses.

Some children with tuberous sclerosis may also benefit from attending special educational centres. Others will be able to attend a mainstream school, but may need extra support during lessons.

Read about children with a learning disability for more information.

mTOR inhibitors

Tuberous sclerosis causes tumours to grow in different parts of your body. For the tumours to grow, certain chemical reactions have to take place. Medicines that interrupt or block these chemical reactions may therefore be able to prevent the tumours growing.

New research is being carried out into medicines called mTOR inhibitors, which can block the chemical reaction that causes the tumours to grow.

There are two mTOR inhibitors: 

• sirolimus 
• everolimus

These have already been shown to shrink:

• angiomyolipomas (AMLs) – the tumours in the kidneys made up of blood vessels, muscle and fat
• subependymal giant cell astrocytomas (SEGAs) – the tumours in the brain; this may mean brain surgery would no longer be necessary 
• lymphangioleiomyomatosis (LAM) – the tumours and cysts inside the lungs
• facial angiofibromas – red skin lesions on the face

The mTOR inhibitors are also being tested to see if they can treat:

• epilepsy
• problems in the brain to do with thinking and learning 
• behavioural problems caused by autistic tendencies

Treatments for the different types of tumours that tuberous sclerosis can cause are explained below.

Subependymal giant cell astrocytomas (SEGAs)

If one or more subependymal giant cell astrocytomas (SEGAs) are detected in the brain during routine screening, it may be necessary to surgically remove them. SEGAs are large non-cancerous brain tumours. If the SEGAs are not removed, they can cause a build-up of fluid on the brain (hydrocephalus). 

Everolimus

Some research has found that everolimus, a type of mTOR inhibitor, can shrink SEGAs in most people who take them. This prevents them causing hydrocephalus and can lead to fewer seizures (fits). This may reduce the need for brain surgery. More long-term studies are needed, but this may be a useful new treatment.

Skin lesions

Skin lesions do not usually present a serious health problem, but they can look unsightly and affect a person's confidence and self-esteem.

Laser therapy can successfully treat skin lesions. It involves using a focused beam of light to remove the lesions. The lesions can sometimes return, so repeated laser therapy sessions may be required. Using sun block is important as this protects the health of the skin long term.

Studies are now underway to test the effectiveness of the new mTOR inhibitors in treating skin rashes when used as a cream. Skin rashes also reduce if people are taking mTOR inhibitor tablets for kidney tumours.

Heart tumours

In most cases, heart tumours will not need treatment. Heart tumours in babies usually shrink as the child gets older, until they are barely detectable as adults. However, in some rare cases surgery may be required to remove the tumours if they begin to seriously affect the functioning of the heart.

Kidney tumours

If kidney tumours cause symptoms of high blood pressure (hypertension), medicine can be used to help lower it. Read about treatments for high blood pressure for more information.

If individual kidney tumours continue to grow larger than 3cm, they can cause dangerous bleeding. The mTOR inhibitor everolimus is used to prevent growing kidney tumours that are not bleeding.

If they bleed, it may be possible to stop their growth using a process called embolisation. They can also be treated with an mTOR inhibitor if they are growing to prevent the risk of bleeding.

mTOR inhibitors

Following early successful trials, everolimus (an mTOR inhibitor) is now the first choice for preventing growing kidney tumours, unless they are bleeding.

However, as this is a relatively new treatment the long-term effects are not yet fully known.

Embolisation

Embolisation is designed to stop the blood supply to tumours.

During embolisation, the surgeon inserts a small tube known as a catheter into your groin at the top of your leg. They will use X-ray images to guide the catheter into the blood supply of your kidney.

A special substance is injected through the catheter to block the blood supply to the tumour. By blocking the blood supply, the tumour will become starved of oxygen and nutrients and shrink.

Further kidney treatment

Very rarely, if you have a severe or total loss of kidney function, you may require: 

• dialysis – where a machine is used to filter your blood  
• a kidney transplant – where your failing kidney is replaced with a healthy one

Lung tumours

Women with multiple lung tumours who go on to develop lymphangioleiomyomatosis (LAM) will usually require medication. Until recently, some women were prescribed progesterone (a female sex hormone). However, this is no longer frequently used.

In more serious cases of LAM that lead to a collapsed lung, emergency surgery is required to repair the lung. In very severe cases, a lung transplant may be required.

Sirolimus

New trials have shown that a type of mTOR inhibitor called sirolimus can successfully halt the progression of LAM. After a year, women with LAM who had been taking sirolimus had reduced symptoms and an improved quality of life. 

However, after the women stopped taking sirolimus their lung function started to get worse again. The drug can also cause a number of side effects, such as feeling sick, constipation or diarrhoea.

Sirolimus is not yet licensed to treat LAM and more research is needed before it becomes an established treatment. However, the early results look promising. 

Eye tumours

Eye tumours rarely need any treatment because they do not usually grow big enough to impair your vision. In rare cases where vision is affected, a technique called photocoagulation can be used.

Photocoagulation is a type of laser surgery that uses lasers to burn away the blood vessels supplying the eye tumours with blood. Blocking the blood supply should shrink the tumours.