Tuberous sclerosis 101

Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a rare, multi-system genetic disease that causes tumors to grow in the brain and in other vital organs such as the kidneys, heart, eyes, lungs and skin. It usually affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioral problems, autism, skin abnormalities, and kidney disease.

What can cause TSC? This is a genetic disease that usually results from a genetic mutation. TSC is caused by defects, or mutations, on two genes – TSC1 and TSC2. Only one of the genes needs to be affected for TSC to be present.

What are some symptoms of TSC? Signs of the disorder vary depending on which system and organs are involved. The natural course of TSC varies from individual-to-individual, with symptoms ranging from very mild to quite severe. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures, cognitive impairment, tumors, behavior problems and skin abnormalities.

How is TSC diagnosed? In many cases, the first clue to recognizing TSC is the presence of seizures or delayed development. In other cases, the first sign may be white patches on the skin (hypomelanotic macules) or the identification of cardiac tumor rhabdomyoma. Cardiac rhabdomyoma is an abnormal growth of a fetal heart, often detected during pregnancy.

How is TSC treated? Currently, there is no cure for TSC; however, treatment is available for a number of the symptoms. Antiepileptic drugs may be used to control seizures. Vigabatrin is a useful medication to treat infantile spasms. Many children with medically refractory epilepsy can be helped with epilepsy surgery. Everolimus is a medication that can shrink the tumors seen in TSC patients, and can help some patients with seizures. TSC is a lifelong condition, so individuals need to be regularly monitored by a team of doctors specializing in this condition to make sure they are receiving the best possible treatments for their symptoms.

To learn more about TSC, please visit Tuberous Sclerosis Alliance.