What is tuberous sclerosis?

Tuberous sclerosis is a rare genetic disorder. It causes uncontrolled cell growth which leads to benign (non-cancer) tumours. These benign growths may affect your:

• brain
• eyes
• heart
• kidneys
• liver
• lungs
• skin

These growths can affect your central nervous system. Over time, the growths may become calcified (hard).

Tuberous sclerosis is also called tuberous sclerosis complex (TSC).

What are the symptoms of tuberous sclerosis?

Symptoms of tuberous sclerosis can vary widely.

Symptoms may include skin changes, such as:

• hypomelanotic macules (white spots)
• angiofibromas (small bumps on your face)
• fibrous plaques (a raised area of pink skin)

Other symptoms are:

• subungual fibromas — growths beneath or around your finger or toenails
• cardiac rhabdomyomas (benign tumours of the heart)
• kidney tumours or cysts
• epilepsy

Your child may be diagnosed with tuberous sclerosis after having a seizure.

Some people with tuberous sclerosis will have TSC associated neuropsychiatric disorders (TAND). These may include:

• autism spectrum disorder
• intellectual disability
• learning disabilities — affecting reading, writing, spelling or maths
• behavioural problems — aggression or temper tantrums
• poor mental health — anxiety or depression

About half of people with tuberous sclerosis are diagnosed by 6 months of age. However, some people are diagnosed when they are adults.

What causes tuberous sclerosis?

In most people, tuberous sclerosis is caused by a mutation (error) in 1 of 2 genes — TSC1 or TSC2.

However, no genetic mutation can be found in just over 1 in 10 people with tuberous sclerosis.

About 3 in 10 people with tuberous sclerosis inherit the faulty gene from a parent.

About 7 in 10 people with tuberous sclerosis have no family history of the disease.

When should I see my doctor?

If you are worried that you or your child have tuberous sclerosis, you should see a doctor.

If you are planning a pregnancy and have a family history of tuberous sclerosis, see your doctor. They may suggest that you have genetic tests to see if you also have the condition.

How is tuberous sclerosis diagnosed?

Your doctor will examine you and ask about your family medical history. They will look at your:

• skin
• fingernails
• teeth
• eyes

You may be advised to have a genetic test.

Finding an error in one of the genes can confirm your diagnosis. But a negative test doesn't mean you don't have tuberous sclerosis.

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

A paediatrician, neurologist or other specialist may confirm your diagnosis.

They may arrange for you to have further tests, such as:

• blood pressure
• blood tests
• MRI scans of your brain or abdomen
• electroencephalogram (EEG)

Your baby may be diagnosed with tuberous sclerosis if growths are found in their heart during antenatal testing.

How is tuberous sclerosis treated?

Although there is no cure for tuberous sclerosis, many symptoms can be treated effectively.

You or your child will be cared for by a team of health professionals. Your treatment will depend on your symptoms.

Medicines for tuberous sclerosis

mTOR inhibitors are a group of medicines that block the action of the mTOR protein. These medicines help to control how many and how large your cells grow. mTOR inhibitors are taken by mouth or used as a cream.

Each year, your doctor will check your:

• liver function
• kidney function
• blood sugar levels

Other treatments for tuberous sclerosis

Laser treatment or surgery may be used to treat large growths that are disfiguring or cause pain or bleeding.

Living with tuberous sclerosis.

It's important to have regular check-ups to make sure you're getting the support and care you need.

Depending on your symptoms you may need:

• dental check-ups every 6 months
• sun protection — for your skin
• eye tests
• chest CT — for adult females with tuberous sclerosis

Each year your doctor will check you for signs of TAND. Finding changes early is important for good results.

What are the complications of tuberous sclerosis?

Tuberous sclerosis affects people in different ways. Most people with the condition have a normal life expectancy.

Cognitive and behavioural problems often cause anxiety and depression.

Other complications include:

• sleep disturbance
• chronic respiratory failure
• chronic kidney failure

Some people may have life-threatening symptoms, such as a brain bleed. Sudden death can happen due to epilepsy or heart arrhythmias.

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

Can tuberous sclerosis be prevented?

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

Resources and support

To learn more about tuberous sclerosis visit Tuberous Sclerosis Australia. You can call the TSA nurse on 1300 733 435.

Genetic Alliance Australia offers support for people affected by rare genetic diseases.

You can also get support to help you deal with some of the signs of tuberous sclerosis.

Epilepsy Australia offers information on how to manage seizures. Call 1300 852 853.

Aspect offers advice on understanding autism. Call 1800 277 328.

Kidney Health Australia offers advice on keeping good kidney health.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.