Tuberous sclerosis

Problems tuberous sclerosis can cause

Tuberous sclerosis is present from birth, although it may not cause obvious problems immediately.

The tumours caused by tuberous sclerosis can result in a range of health problems, including:

• epilepsy – a condition that causes seizures (fits)
• learning disabilities
• behavioural problems – such as hyperactivity or an autistic spectrum disorder
• skin abnormalities – such as patches of light-coloured or thickened skin, or red acne-like spots on the face
• the kidneys not working properly
• difficulty breathing
• a build-up of fluid on the brain (hydrocephalus)

These problems can range from mild to severe, and it's possible to have only a few of these problems or a wide range. Members of the same family may be affected very differently by tuberous sclerosis. 

Causes of tuberous sclerosis

Tuberous sclerosis is caused by changes (mutations) in either the TSC1 or TSC2 gene. These genes are involved in regulating cell growth.  The mutations lead to uncontrolled growth and multiple tumours throughout the body.

In around 3 in every 4 cases, the genetic fault occurs for no obvious reason in people without any other affected family members.

In the remaining 1 in 4 cases, the fault is passed on to a child by their parents. Only one parent needs to carry the faulty gene to pass it on, and a parent who has one of the faulty genes has a 1 in 2 chance of passing it on to each child they have.

The parent carrying the faulty gene will also have tuberous sclerosis, although sometimes it may be so mild they do not realise.

Diagnosing tuberous sclerosis

To diagnose tuberous sclerosis, you'll be asked about your family's medical history. You'll also have a number of tests to look for signs of the condition.

Healthcare professionals use a checklist of the characteristic features of tuberous sclerosis – such as abnormal areas of skin, or tumours in your eyes, brain, heart, lungs or kidneys – to confirm a diagnosis.

Several tests will be needed to check for these features.

Finding out about your family's medical history is also important because tuberous sclerosis can sometimes run in families.

How tuberous sclerosis is treated

There is no cure for tuberous sclerosis. But there is a range of treatments for many of the problems caused by the condition.

For example:

• epilepsy may be controlled with medication or, in some cases, surgery
• extra educational support can help children with learning disabilities
• challenging behaviour and psychiatric problems – such as autism, anxiety or depression – can be treated with behavioural interventions and medication
• brain tumours can be surgically removed or shrunk with medication
• the facial rash can be treated with laser therapy or medication applied to the skin
• medication can control symptoms caused by reduced kidney function and can help shrink kidney tumours
• lung problems can be treated with medication

People with tuberous sclerosis will also need to have regular tests to monitor the function of the organs that can be affected by the condition.

Outlook

The outlook for people with tuberous sclerosis can vary considerably.

Some people have few symptoms and the condition has little effect on their life, while others – particularly those with a faulty TSC2 gene or obvious problems from an early age – can have severe and potentially life-threatening problems that require lifelong care.

Many people will have a normal lifespan, although a number of life-threatening complications can develop. These include a loss of kidney function, a serious lung infection called bronchopneumonia and a severe type of epileptic seizure called status epilepticus.

People with tuberous sclerosis may also have an increased risk of developing certain types of cancer, such as kidney cancer, but this is rare.

• Find out more about tuberous sclerosis on the NHS website

More useful links

• How to use your health services
• Tuberous Sclerosis Association (TSA)