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Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes benign (non-cancerous) tumours to develop in different parts of the body. Tumours can develop on the skin and in the:
There is currently no cure for tuberous sclerosis, but there is a range of treatments for many of the associated symptoms (see Tuberous sclerosis - treatment). New research is also showing that medicines called mTOR inhibitors may have important benefits in the future.
Associated conditions and complications
The benign tumours that develop from tuberous sclerosis can cause a range of other associated health conditions and complications. These include:
The range and severity of the associated health conditions caused by tuberous sclerosis can vary significantly from person to person, even among members of the same family.
For example, some people with tuberous sclerosis do not have many symptoms and the condition has no real impact on their quality of life. For others, tuberous sclerosis may severely affect their intellectual development or cause life-threatening complications such as lung failure, and require life-long care.
See Tuberous sclerosis - symptoms for more information.
Who is affected by tuberous sclerosis?
Tuberous sclerosis is a rare condition that affects 1 in every 6,000 live births worldwide. The condition is caused by mutations (changes) in one of two genes. These are:
As both of these genes are involved in regulating cell growth, it is thought that the mutations are responsible for causing multiple benign tumours to develop. In around a quarter of cases, a child inherits one of the mutated genes from one of their parents. In the other 75% of cases, the mutation that causes tuberous sclerosis occurs for no apparent reason.
Both sexes and all ethnic groups are equally affected by the tuberous sclerosis. See Tuberous sclerosis - causes for more information.
The outlook for people with tuberous sclerosis depends on several main factors:
Most people with tuberous sclerosis will live a normal life span, but a number of complications may develop and can be fatal (see Tuberous sclerosis - complications).
People with epilepsy that is difficult to treat are at risk of a condition called sudden unexpected death in epilepsy (SUDEP). This affects about 1 in every 250 people with difficult epilepsy every year. Other serious problems that can occur later include hydrocephalus, kidney or lung problems.
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The benign (non-cancerous) tumours that are caused by tuberous sclerosis can develop almost anywhere in the body. However, the areas most commonly affected include the:
Neurological conditions and complications
Tumours that develop in the brain can affect its ability to function normally, and cause a range of neurological conditions and complications. 'Neurological' is a term that is used to describe the nervous system, which includes the brain.
Epilepsy is the most common neurological symptom of tuberous sclerosis, affecting up to 9 out of 10 people with the condition. Epilepsy is a condition that causes repeated seizures (fits) and a temporary loss of consciousness.
See the A-Z topic about Epilepsy for more information.
Around a third of children will develop a more severe form of epilepsy known as infantile spasms. They usually develop during the first three months of life.
Infantile spasms occur when the baby has multiple seizures in a short space of time. Each seizure often lasts only for a few seconds. A baby usually has a ‘run’ or ‘cluster’ of around 20 seizures, although some babies can have up to 100 seizures over a short period of time.
Infantile spasms usually disappear by the time a child is three years old, but the condition often causes permanent brain damage. An estimated 7 out of 10 children who experience infantile spasms will go on to develop some degree of brain damage and impaired intelligence, such as very slow co-ordination or speech.
Nearly half of all children with tuberous sclerosis will have a learning disability. In some cases, the learning disability could be quite mild, resulting in minor learning difficulties. In other cases, it could be severe and result in profound disability.
Possible difficulties include:
Behavioural and developmental disorders
Around half of all children with tuberous sclerosis may also have behavioural or developmental disorders due to the way the condition affects their brain. These include:
Subependymal giant cell astrocytomas (SEGAs)
A small number of people with tuberous sclerosis will develop multiple types of large benign brain tumours. These are known as subependymal giant cell astrocytomas (SEGAs). SEGAs can develop at any age, but they most commonly occur after the teenage years.
In about 1 in 20 people who have SEGAs, the SEGAs grow too big and there is a risk that they will obstruct the flow of cerebrospinal fluid through the brain. Cerebrospinal fluid is a clear fluid that surrounds and protects the brain and spine.
If the flow of cerebrospinal fluid is blocked, it can cause pressure to build up in the brain. This is known as hydrocephalus. Symptoms can include:
In cases of hydrocephalus, emergency surgery is required to drain away any excess fluid from the brain. If left untreated, hydrocephalus can cause brain damage or, in the most serious cases, death.
See the A-Z topic about Hydrocephalus for more information.
Around 9 out of 10 of people with tuberous sclerosis will develop skin lesions. They usually occur during early childhood and can take the form of:
Red acne-like spots and blemishes are also common, especially on the face.
Up to 8 out of 10 children with tuberous sclerosis will develop multiple benign tumours inside their kidneys, usually by five years of age. The kidney tumours are called angiomyolipomas (AMLs) and are made up of blood vessels, muscle and fat.
Kidney tumours that are bigger than 3cm and growing larger can rupture (split) and cause internal bleeding. If this occurs, it will cause sudden pain and may require surgery. This is the most common kidney problem and occurs in up to 2 out of 10 people with tuberous sclerosis.
If the kidney tumours become too large, they can interfere with eating or occasionally with the workings of the kidneys. This can cause symptoms similar to kidney disease, such as:
Some people with tuberous sclerosis are also born with polycystic kidneys. This is when multiple cysts develop in the kidneys. Cysts are small sacs that are filled with fluid.
Like tuberous sclerosis, polycystic kidneys are caused by a genetic defect. One of the genes that causes tuberous sclerosis is next to the gene that causes polycystic kidneys. In some people, both are missing.
Polycystic kidneys can cause symptoms of high blood pressure (hypertension) and kidney disease. Polycystic kidneys are also the most common cause of kidney failure in people with tuberous sclerosis, which occurs in 1 in 20 people. See the A-Z topic about Autosomal dominant polycystic kidney disease for more information about this condition.
About 2 or 3 out of 10 children with tuberous sclerosis can also develop multiple simple cysts in their kidneys, but these kidney cysts usually cause no symptoms.
Less than 3 in 100 people with tuberous sclerosis will develop a type of kidney cancer called renal cell carcinoma. See the A-Z topic about Kidney cancer for more information.
Up to two thirds of infants born with tuberous sclerosis will develop one or more benign tumours inside their heart. These tumours are usually very small and do not cause any symptoms. Unlike the other types of tumour that are caused by tuberous sclerosis, heart tumours will usually shrink and become much more difficult to detect as a child gets older.
However, in a small number of children, the tumours can block the flow of blood inside the heart, or cause it to beat irregularly (arrhythmia).
Heart problems can also cause associated symptoms, including:
An estimated three quarters of people with tuberous sclerosis will develop one or more benign tumours inside their eyes. The tumour(s) grow on the surface of the retina, which is the thin layer of nerve cells that line the inside of the back of the eye. However, they rarely grow large enough to affect a person’s vision.
An estimated 40-60% of women with tuberous sclerosis will develop non-cancerous tumours and cysts inside their lungs. This is a condition called lymphangioleiomyomatosis (LAM). The condition usually develops at around 20 to 40 years of age. It is unclear why women are particularly vulnerable to lung tumours while men are not.
In most cases, these cysts and tumours do not cause a problem. Around half of all women with tuberous sclerosis may have lung tumours that show up when their lungs are scanned, but do not cause any symptoms.
However, around 1 in 20 women with tuberous sclerosis develops symptoms from their lung tumours. The tumours can cause shortness of breath and can feel like asthma. In some cases, one or more of the tumours can rupture, resulting in a collapsed lung. A collapsed lung can be life-threatening. It occurs when air leaks out from inside the lung. In the most serious cases, women with tuberous sclerosis and lung tumours can develop progressive lung failure.
Causes of tuberous sclerosis
Tuberous sclerosis is caused by a genetic mutation that occurs in one of two genes:
Genetic mutations occur when the deoxyribonucleic acid (DNA) inside the gene changes. DNA is the long molecule inside a gene that stores genetic information. If the DNA changes, this alters the genetic information, which can cause a genetic disorder to develop.
Mutations are often inherited from a parent, or they can occur when a sperm or egg is made, and a new mutation is created. Mutations can also occur if DNA is damaged – for example, by natural chemicals (including water and oxygen) or by radiation or sunlight.
Someone with a new mutation will not have a family history of a condition, but they may be at risk of passing on the mutation to their children.
See the A-Z topic about Genetics for more information.
The TSC1 and TSC2 genes
Both of these genes are responsible for regulating cell growth. The genetic mutation is thought to affect the gene’s ability to properly control cell growth, leading to the development of multiple tumours throughout the body.
In around a quarter of cases of tuberous sclerosis, a child will inherit one of the mutated genes from one of their parents. If you are a parent who has one of the mutated genes, you have a 1 in 2 chance of passing it on every time you conceive a child. The severity of symptoms can often vary between an affected parent and an affected child.
In the other three quarters of cases of tuberous sclerosis, the mutation occurs for no apparent reason. This is known as a spontaneous mutation.
Currently, there is no way of identifying people who may be more likely to experience a spontaneous mutation.
The chance of getting tuberous sclerosis is the same for both sexes. All ethnic groups are equally affected by the condition.
The length of time that it takes to make a successful diagnosis of tuberous sclerosis will depend on how severe a child’s symptoms are.
For example, in a young child who quickly develops symptoms of epilepsy and kidney disease, tuberous sclerosis may immediately be suspected as an underlying cause. However, in children with few symptoms, a diagnosis may not be made until they develop patches on their skin, which can take several years.
Healthcare professionals use a diagnostic checklist to help diagnose tuberous sclerosis. The checklist is made up of major and minor features. If a child has at least two major features, or one major and two minor features, it is likely that they have tuberous sclerosis.
The major features include:
The minor features include:
Testing for tuberous sclerosis
A number of tests can also help to confirm a diagnosis of tuberous sclerosis. These are:
Tuberous Sclerosis Association (TSA)
The Tuberous Sclerosis Association (TSA) provides information, advice and support to all individuals and families who are affected by the condition.
You can visit the TSA website for more information about tuberous sclerosis and to access the online community. You can also contact the organisation’s specialist advisers in your area. They may be able to provide additional advice and support.
Tuberous sclerosis is a life-long condition that requires life-long 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.
You and your child will also be assigned a key worker who will be your point of contact with the various support services that are 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.
See the box to the left for more information about the healthcare professionals who may be involved in your or your child’s care.
Someone with tuberous sclerosis will require regular screening tests throughout their life. This is in order to regularly monitor and assess the functions of the organs that are most vulnerable to the condition, such as the brain, kidneys and lungs.
Types of screening tests may include:
How often these screening tests need to be carried out will depend on your or your child’s age and the type and range of symptoms.
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.
Epilepsy in people with tuberous sclerosis is thought to be caused by tumours in the brain (epileptogenic tubers). If a brain scan can identify these tumours, you can have surgery to remove them. This may be an effective treatment for your epilepsy.
This type of surgery tends to be more successful if there are just one or two brain tumours, rather than several. One study found that over 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, which is similar to a pacemaker, under the skin near the collarbone.
The device has a lead that is wrapped around one of the nerves (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.
Also, if you feel the warning sign of a seizure coming on, you can activate an extra ‘burst’ of stimulation, which can often prevent the seizure from occurring.
It is not fully understood exactly how and why VNS works, but it is thought that stimulating the vagus nerve alters the chemical transmissions in the brain.
See the A-Z topic about Epilepsy - treatment for more information about these treatments and others, such as the ketogenic diet.
Behavioural and learning problems
If your child is experiencing behavioural problems or has a learning disability, it is likely that 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 that will 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.
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 from 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:
These have already been shown to shrink:
The mTOR inhibitors are also being tested to see if they can treat:
Explained below are treatments for the different types of tumours that tuberous sclerosis can cause.
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 benign (non-cancerous) brain tumours. If the SEGAs are not removed, they can cause a build-up of fluid on the brain (hydrocephalus).
Some research has found that everolimus, a type of mTOR inhibitor, can shrink SEGAs and allow them to cause seizures (fits) less often. This may reduce the need for brain surgery. More long-term studies are needed, but this may be a useful new treatment.
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. Studies are now underway to test the effectiveness of the new mTOR inhibitors in treating skin rashes.
In most cases, heart tumours will not need treatment. Heart tumours in babies often shrink as the child gets older, before disappearing altogether. However, in some rare cases, surgery may be required to remove the tumours if they begin to seriously affect the functioning of the heart.
If kidney tumours cause symptoms of high blood pressure (hypertension), medicine can be used to help lower it. See the A-Z topic about High blood pressure - treatment for more information.
If individual kidney tumours continue to grow larger than 3cm, they can cause dangerous bleeding. It may be possible to stop their growth using a process called embolisation.
Embolisation is designed to stop the blood supply to tumours.
During embolisation, the surgeon will insert 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 will be injected through the catheter to block the blood supply to the tumour in your kidney. By blocking the blood supply the tumour will become starved of oxygen and nutrients, and it will shrink.
Following on from early successful trials, some worldwide studies are underway to assess the safety and effectiveness of mTOR inhibitors in shrinking kidney tumours.
Further kidney treatment
Very rarely, if you have a severe or total loss of kidney function, you may require:
Women with multiple lung tumours who go on to develop lymphangioleiomyomatosis (LAM) will usually require medication. Until recently, some people were prescribed progesterone (a female sex hormone) because some people with LAM respond to this. However, this is no longer frequently used.
In more serious cases of LAM that lead to a collapsed lung, emergency surgery will be required to repair the lung. In very severe cases, a lung transplant may be required.
New trials have just 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:
After the women stopped taking sirolimus, their lung function started to get worse again. Sirolimus 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 rarely need any treatment because they do not usually grow big enough to impair your vision. In rare cases where eye tumours affect vision, they can be treated using a technique called photocoagulation.
Photocoagulation is a type of laser surgery that uses lasers to burn away the blood vessels that supply the eye tumours with blood. Blocking the blood supply should shrink the tumours.
Complications of tuberous sclerosis may develop if the condition gets worse. This is why regular screening and treatment is so important. Possible complications include:
Status epilepticus and bronchopneumonia are the most common reasons for people with tuberous sclerosis dying early. They are more likely to occur in people with severe learning disabilities.
If you have epilepsy that is difficult to treat, you may be at risk of sudden unexpected death in epilepsy (SUDEP). This is when somebody with epilepsy dies and no apparent cause can be found. SUDEP may affect about 1 in every 250 people with difficult epilepsy.
Epilepsy Action, an organisation for people with epilepsy in Britain, has more information about SUDEP on its website.
Kidney failure is usually caused by polycystic kidney disease (see Tuberous sclerosis - symptoms). Sometimes, kidney failure is due to having surgery multiple times for bleeding angiomyolipomas (AMLs). AMLs are tumours in the kidneys, and they are made up of blood vessels, muscle and fat.
The main risk of AMLs is that an individual tumour can grow larger than 3cm and keep growing. They can then develop a huge but weak blood vessel that can burst. This causes bleeding, which can be life-threatening because of the size of the blood vessel. Over a lifetime, up to 2 out of 10 people with tuberous sclerosis will have an episode of bleeding.
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