Is tuberous sclerosis life-threatening?
Depending on where the noncancerous growths (benign tumors), develop and their size, they can cause severe or life-threatening complications in people with tuberous sclerosis. Here are some examples of complications: Excess fluid in and around the brain.
What is the life expectancy of someone with tuberous sclerosis?
What Is the Normal Life Expectancy of an Individual with TSC? Most people with TSC will live a normal life span. There can be complications in some organs such as the kidneys, lungs, and brain that can lead to severe difficulties and even death if left untreated. Uncontrolled epilepsy can also be life-threatening.
Is tuberous sclerosis fatal?
Mortality. The most common cause of fatality for individuals with tuberous sclerosis is status epilepticus due to tumors in the brain, closely followed by bronchopneumonia and renal failure. There is a significant risk of heart failure in fetuses and neonates with cardiac rhabdomyoma.
Is tuberous sclerosis rare disease?
Tuberous sclerosis is a rare genetic disorder that affects 1 in 6,000 newborns in the United States. Approximately 40,000 to 80,000 people in the United States have tuberous sclerosis.
Can tuberous sclerosis be cured?
Although there is no cure for tuberous sclerosis, treatment can help manage specific symptoms. For example: Medication. Anti-seizure medications may be prescribed to control seizures.
How does someone get tuberous sclerosis?
What causes tuberous sclerosis? Tuberous sclerosis is caused by changes (mutations) 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.
Who gets tuberous sclerosis?
Some people may have learning problems. Tuberous sclerosis affects every 1 in 6,000 newborns in the United States. The disorder occurs in both boys and girls and in people of all races and ethnic groups.
What are the symptoms of tuberous sclerosis complex?
Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person. Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails.
Can a new mutation in TSC1 cause tuberous sclerosis?
Tuberous sclerosis can be the result of either: A random cell division error. About two-thirds of people who have tuberous sclerosis have a new mutation in either the TSC1 or TSC2 gene — the genes associated with tuberous sclerosis — and do not have a family history of tuberous sclerosis.
Can a person with tuberous sclerosis develop kidney failure?
If the kidneys are filled with cysts, kidney dysfunction and kidney failure can eventually develop. Individuals with tuberous sclerosis may have a greater risk of developing certain cancers of the kidney than the general population, although their overall occurrence is still very uncommon.
Are there any medications for tuberous sclerosis ( TSC )?
Antiepileptic drugs may be used to control seizures. Vigabatrin is a particularly useful medication in TSC, and has been approved by the U.S. Food and Drug Administration (FDA) for treatment of infantile spams in TSC, although it has significant side effects. The FDA has approved the drug everolimus (Afinitor®)…