Tuberous sclerosis

Tuberous Sclerosis Complex (TSC) is a genetic disorder that affects people in many different ways. Some people with TSC are so mildly affected they may go through life without the diagnosis being made.

TSC is often referred to simply as Tuberous Sclerosis (TS) and affects approximately 1 in 9000 people. There is no cure for TSC but there are treatments available for many of the symptoms.

The common features that are characteristic of TSC are:

  • Brain: Many different types of non-cancerous growths (tumours or lesions) may occur in the brain. About 50% of people with TSC have an IQ in the normal range. Individuals with TSC can have clinical features such as epilepsy (seizures), learning disabilities, intellectual impairment, autism spectrum disorders and sleep disorders. There is a wide range of severity of these symptoms.
  • Skin: Multiple white patches (hypopigmented macules) on the skin are often the first sign of TSC. Other skin rashes may develop with time, but none of these skin symptoms cause serious medical problems.
  • Heart: Rhabdomyomas are growths that occur in the heart muscle. These often do not cause any medical problems and generally shrink with age. Very occasionally, surgery is required if the growth is blocking blood flow.
  • Kidneys: Cysts and growths can occur in the kidneys. The most common type of kidney (renal) growth is called an angiomyolipoma or AML. These can sometimes cause kidney problems and there is a slightly increased risk of kidney cancer in people with TSC. A very small number of people also have another renal problem, called polycystic kidney disease as well as TSC.
  • Lungs: Cysts can occur in the lungs. This is called lymphangioleiomyomatosis (LAM) of the lung. LAM may not cause any problems or may cause shortness of breath requiring medical attention. LAM affects about 30% of women with TSC, and is seen only very rarely in men.
  • Eyes: Benign tumours called harmatomas can occur at the back of the eye (retina). These generally do not affect vision.

There is no cure for TSC, but the symptoms can be treated or managed. Regular surveillance to look for symptoms and early treatment are associated with better health and quality of life for people with TSC.

Australasian Tuberous Sclerosis Society (ATSS)