Tuberous sclerosis: All you need to know

• What is tuberous sclerosis?

Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes mainly non-cancerous (benign) tumours to develop in different parts of the body.

The tumours most often affect the brain, skin, kidneys, heart, eyes and lungs.

Tuberous sclerosis is present from birth, although it may not cause obvious problems immediately. It's estimated that around 1 in every 6,000 babies are born with the condition.

• What are causes of tuberous sclerosis?

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

In around three in every four cases, the genetic fault occurs for no apparent reason in people without any other affected family members.

In the remaining one in four 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 one in two 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 that they don't realise it.

• How can tuberous sclerosis be treated?

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

Research has found that mTOR inhibitors, which interrupt the chemical reactions needed for tumours to grow, may be a very useful treatment in the future.

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.

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