What is tuberous sclerosis?

Tuberous sclerosis is an uncommon genetic disorder. It involves the overgrowth of normal tissue in many different parts of your body. It may affect your brain, skin, kidneys, eyes, heart and lungs. Over time, the growths become hardened (calcified).

Growths that start in the brain before birth can cause delayed development, intellectual disability and behavioural problems.

What are the symptoms of tuberous sclerosis?

Symptoms vary widely so you may be severely affected by tuberous sclerosis, or you may not even realise you have it.

Symptoms may include:

• skin abnormalities, such as red or pink spots on your face, or discolouration of your skin or nails elsewhere
• benign growths on your brain, kidneys, heart, lungs, gut or eyes — these tumours are not cancerous but can cause problems if they become large and affect normal body functions
• seizures
• autism spectrum disorder
• intellectual disability or difficulties with learning, behaviour, thinking or mental health

These signs and symptoms usually develop when a child is aged between 2 and 6, but they may appear earlier or later. Some people are diagnosed when they are adults.

What causes tuberous sclerosis?

Tuberous sclerosis is caused by an error (mutation) in your genes. About 4 in 10 people with tuberous sclerosis inherit the faulty gene from a parent. About 6 in 10 people with tuberous sclerosis have no family history of the disease.

When should I see my doctor?

If you find out that your unborn baby or your child has tuberous sclerosis, you should talk to your doctor about genetic tests to see if you or your partner also have the condition.

How is tuberous sclerosis diagnosed?

Your baby may be diagnosed with tuberous sclerosis before they are born, if growths are found in their heart during antenatal testing. Sometimes, your child may be diagnosed with tuberous sclerosis after having a seizure.

Tests may include a physical examination, eye examination, a CT or MRI scan to check for growths in the brain, or an ultrasound to check for growths in the kidneys.

A paediatrician, neurologist or other specialist may confirm the diagnosis and do more testing.

It can take some time to diagnose tuberous sclerosis, because the symptoms can resemble many other conditions.

Some people are advised to have a genetic test. Finding an error in one of the genes will confirm the diagnosis. But if the test is negative, that doesn’t mean you don’t have tuberous sclerosis.

How will I need to manage tuberous sclerosis?

Although there is no cure for tuberous sclerosis, there are new medicines available in Australia to treat the growths.

Ideally, you or your child will be cared for by a team of health professionals, who will provide the full range of care. You may need a range of treatments to help maintain kidney, brain and lung health.

Many symptoms can be treated effectively. For example, medicines may be able to:

• reduce the size of the growths
• control some skin complaints
• reduce seizures

Laser treatment may also be used to remove facial spots.

It is important to have regular check-ups to make sure you’re getting all the support and care you need.

Can I prevent tuberous sclerosis?

If someone in your family has tuberous sclerosis, and especially if you are planning a pregnancy, ask your doctor about genetic counselling.

What are the complications of tuberous sclerosis?

Tuberous sclerosis affects different people in different ways. Most people with the condition have a normal life expectancy. Some people may experience life-threatening symptoms.

Having regular check-ups can identify problems early so they can be treated.

Resources and support

• Tuberous Sclerosis Australia has information about tuberous sclerosis. Email info@tsa.org.au or call 1300 733 435.
• Genetic Alliance Australia offers information and support for people affected by rare genetic diseases.
• The US National Institute of Neurological Disorders and Stroke has information about tuberous sclerosis and research that is being done to treat it.

You can also find information and support to help you deal with some of the symptoms of tuberous sclerosis.

• Epilepsy Australia offers information on dealing with seizures. Call 1300 852 853.
• Autism Spectrum Australia offers information on understanding autism. Call 1800 277 328.
• Kidney Health Australia offers advice on maintaining good kidney health.