Tuberous sclerosis

Treatment

What are the first steps after an initial diagnosis of tuberous sclerosis?

After an initial diagnosis of tuberous sclerosis (TSC), your doctor will take a comprehensive medical history. Several different tests may be run to see what organ systems of the body are affected. Doctors recommend that all newly-diagnosed individuals be evaluated for TSC-associated neuropsychiatric disorders (TANDs) including autistic-behaviors, aggressive behaviors, intellectual disability, or psychiatric problems. People with TSC should receive information about their disorder and work with doctors to develop and an overall treatment plan. Doctors may recommend testing family members to see whether they also have the disorder.

The best way to obtain the most accurate, current, clear, and comprehensive information is to be seen at a TSC clinic. These are genetic centers that specialize in the treatment of patients with TSC. At most centers, you will see a medical geneticist, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. A TSC clinic will work with your current doctors to organize the treatment, tests, and specialists you need. The Tuberous Sclerosis Alliance has a listing of TSC clinics in the United States.

References
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: Management. UpToDate Inc. website. Accessed May 24, 2017. http://www.uptodate.com/contents/tuberous-sclerosis-complex-management
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Is there a cure for tuberous sclerosis?

How are seizures treated in tuberous sclerosis?

How are brain tumors treated in tuberous sclerosis?

How are the kidneys treated in tuberous sclerosis?

How are the lungs treated in tuberous sclerosis?

How are TSC-related neuropsychiatric disorders treated in tuberous sclerosis?

Do people with tuberous sclerosis need periodic checkups?

Is there a cure for tuberous sclerosis?

There is no cure for tuberous sclerosis. There are many different treatments to help manage the symptoms of the disorder. Specific treatments depend on many different factors including what organ systems are affected and what symptoms have developed, how old a patient is, a person overall health and personal preference. The care of people with tuberous sclerosis is high individualized because the disorder can affect people very differently.

The 2012 International Tuberous Sclerosis Complex Consensus Conference published guidelines for the treatment and management of people with tuberous sclerosis. Treatments include medications, surgery, and supportive services including occupational, physical and speech therapy. Sometimes remedial education and rehabilitative and behavioral therapy may be recommended.

In 2018, the U.S Food and Drug Administration (FDA) approved everolimus (Afinitor®) for the treatment of children and adults with tuberous sclerosis (TS) and partial-onset seizures. Everolimus is also approved by the FDA for the treatment of adults with several other tumors with and without TS. Everolimus is an mTOR inhibitor. The mTor pathway is a series of biochemical reactions that help to regulate cell growth, spread, and survival. This pathway is overactive in people with tuberous sclerosis and drugs like everolimus slow down (or inhibit) these chemical reactions.

References
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: Management. UpToDate Inc. website. Accessed May 24, 2017. http://www.uptodate.com/contents/tuberous-sclerosis-complex-management
  • Northrup H, Krueger DA, on behalf of the International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct; 49(4): 243-254. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080684/
How are seizures treated in tuberous sclerosis?

About 80% of people with tuberous sclerosis will develop seizures at some point during their lives. If people have seizures, they may be treated with anti-seizure drugs. These drugs are sometimes called anti-convulsants. There are many kinds of anti-convulsants. Controlling seizures can be difficult especially in children. Sometimes drugs don't work, or they work for a little while and then stop working. Children may have different types of seizures and some drugs may work better for certain types of seizures. A specific seizure, called infantile spasms, may be treated by vigabatrin (Sabril®) or corticotrophic hormone (Acthar® gel).

In 2018, the U.S Food and Drug Administration (FDA) approved everolimus (Afinitor®) for the treatment of children and adults with tuberous sclerosis (TS) and partial-onset seizures. Everolimus is also approved by the FDA for the treatment of adults with several other tumors with and without TS. Everolimus is an mTOR inhibitor. The mTor pathway is a series of biochemical reactions that help to regulate cell growth, spread, and survival. This pathway is overactive in people with tuberous sclerosis and drugs like everolimus slow down (or inhibit) these chemical reactions.

If drugs do not stop the seizures, physicians have tried the ketogenic diet, vagus nerve stimulation, and surgery. The ketogenic diet is a high-fat, low-carbohydrate diet that has shown to be effective in reducing seizures in some people. This diet is usually recommended for children if different anti-seizure medications have not worked. The Epilepsy Foundation has information on the ketogenic diet. Vagus nerve stimulation involves having a small device called a pulse generator implanted near the neck to stimulate the vagus nerve. This nerve is the longest of the 12 cranial nerves. The generator sends electrical impulses through the vagus nerve to the brain to prevent seizures. Surgery can also be used to treat seizures in tuberous sclerosis that do not improve with drug treatment. This is especially true if a brain tumor is present.

References
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: Management. UpToDate Inc. website. Accessed May 24, 2017. http://www.uptodate.com/contents/tuberous-sclerosis-complex-management
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
How are brain tumors treated in tuberous sclerosis?

Although brain tumors in tuberous sclerosis are benign (noncancerous), they can cause serious problems because they can grow and damage surrounding brain tissue. There are two main options for treating brain tumors. There is a drug called everolimus (Afinitor®) that can be used for people in certain situations or there is surgery.

In 2018, the U.S Food and Drug Administration (FDA) approved everolimus (Afinitor®) for the treatment of children and adults with tuberous sclerosis (TS) and partial-onset seizures. Everolimus is also approved by the FDA for the treatment of adults with several other tumors with and without TS. Everolimus is an mTOR inhibitor. The mTor pathway is a series of biochemical reactions that help to regulate cell growth, spread, and survival. This pathway is overactive in people with tuberous sclerosis and drugs like everolimus slow down (or inhibit) these chemical reactions.

In other situations, doctors may have to remove a brain tumor surgically. Sometimes, surgery is necessary because a tumor causes cerebrospinal fluid (the fluid that cushions the brain and spinal cord) to build up in the brain causing pressure. Surgeons will remove the tumor or may put in a shunt that will allow the fluid to drain out of the brain.

References
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: Management. UpToDate Inc. website. Accessed May 24, 2017. http://www.uptodate.com/contents/tuberous-sclerosis-complex-management
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
How are the kidneys treated in tuberous sclerosis?

The most common kidney tumor is tuberous sclerosis is called an angiomyolipoma. These types of tumors are made up of fat, blood vessels and smooth muscle cells. Over time, these tumors will grow larger and more may form as children age. Many people will not need any treatment as these tumors may not cause symptoms. Sometimes, they can cause pain and worsening function of the kidneys, or they can rupture causing bleeding that potentially can become life-threatening.

In 2018, the U.S Food and Drug Administration (FDA) approved everolimus (Afinitor®) for the treatment of children and adults with tuberous sclerosis (TS) and partial-onset seizures. Everolimus is also approved by the FDA for the treatment of adults with several other tumors with and without TS. Everolimus is an mTOR inhibitor. The mTor pathway is a series of biochemical reactions that help to regulate cell growth, spread, and survival. This pathway is overactive in people with tuberous sclerosis and drugs like everolimus slow down (or inhibit) these chemical reactions. Doctors are studying these types of drugs to see if they are effective in treating other symptoms of tuberous sclerosis ilke those in the kidney.

Sometimes, doctors may recommend embolization, a type of surgery where doctors prevent the blood flow to a certain area of the body. Embolization blocks the blood supply a tumor needs to grow and survive. The tumor will shrink. Doctors may then give corticosteroids to reduce inflammation and remove the shrunken tumor surgically.

Less often, there may be other problems with the kidneys that require different treatments. Talk to your or your child's doctor and entire medical team, which should include a specialist who is trained in diagnosing and treating the kidneys (nephrologist), about how tuberous sclerosis can affect the kidneys.

References
  • Torres VE, Bennett WM. Renal manifestations of tuberous sclerosis complex. UpToDate, Inc. website. Accessed May 24, 2017. http://www.uptodate.com/contents/renal-manifestations-of-tuberous-sclerosis-complex
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
How are the lungs treated in tuberous sclerosis?

Some people with tuberous sclerosis may develop lung problems that are virtually identical to a lung disorder called lymphangioleiomyomatosis or LAM. This is more common in younger women. LAM can cause difficult breathing or coughing, particularly following exercise or other physical activity. The disorder slowly gets worse and can cause a collapsed lung or fluid to accumulation around the lungs. In women, LAM tends to worsen during pregnancy.

In 2018, the U.S Food and Drug Administration (FDA) approved everolimus (Afinitor®) for the treatment of children and adults with tuberous sclerosis (TS) and partial-onset seizures. Everolimus is also approved by the FDA for the treatment of adults with several other tumors with and without TS. Everolimus is an mTOR inhibitor. The mTor pathway is a series of biochemical reactions that help to regulate cell growth, spread, and survival. This pathway is overactive in people with tuberous sclerosis and drugs like everolimus slow down (or inhibit) these chemical reactions.

Some doctors believe that female hormones like estrogen play a role in the development of LAM in tuberous sclerosis. This is because young women of childbearing age are most likely to develop this problem. Some doctors will recommend drugs that lower the levels of estrogen in the body. Such treatment has helped some women, but not others and no evidence proving a link between estrogen and LAM has been found yet.

Sometimes, lung function in people with tuberous sclerosis is bad enough that they require oxygen supplementation.

References
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.
How are TSC-related neuropsychiatric disorders treated in tuberous sclerosis?

Some children and adults with tuberous sclerosis (TSC) will have some specific neuropsychiatric problems. This is called TSC-related neuropsychiatric disorders or TANDs. This includes a collective group of behavioral, psychiatric, intellectual, academic, neuropsychological and psychological problems. Such problems may include autistic-like behaviors, attention deficit hyperactivity disorder, sleep problems, disruptive behaviors, emotional problems, and learning and cognitive issues. Children and adults should be screened every year for TANDs.

Treatment for TANDs depends on how an individual person is affected. This can include occupational, physical and speech therapy; rehabilitative and behavioral therapy; special remedial education; vocational and social support; and psychiatric evaluation. The Tuberous Sclerosis Alliance has information and support for people with tuberous sclerosis. The Arc, is an organization that provides support for people with intellectual and developmental problems.

In 2018, the U.S Food and Drug Administration (FDA) approved everolimus (Afinitor®) for the treatment of children and adults with tuberous sclerosis (TS) and partial-onset seizures. Everolimus is also approved by the FDA for the treatment of adults with several other tumors with and without TS. Everolimus is an mTOR inhibitor. The mTor pathway is a series of biochemical reactions that help to regulate cell growth, spread, and survival. This pathway is overactive in people with tuberous sclerosis and drugs like everolimus slow down (or inhibit) these chemical reactions.Researchers are studying this drug and drugs like this one to see if they can improve mental and behavioral issues in tuberous sclerosis.

References
  • Tuberous Sclerosis. The National Organization for Rare Disorders website. Accessed June 8, 2017. https://rarediseases.org/rare-diseases/tuberous-sclerosis/
  • Owens J, Bodensteiner JB. Tuberous sclerosis complex: Management. UpToDate Inc. website. Accessed May 24, 2017. http://www.uptodate.com/contents/tuberous-sclerosis-complex-management
  • DiMario FJ Jr, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 ;62(3):633-48. https://www.ncbi.nlm.nih.gov/pubmed/26022167
Do people with tuberous sclerosis need periodic checkups?

People with tuberous sclerosis will need to monitor their health. Periodic checkups will be necessary because benign tumors can form at any age and affect almost any organ system. Some symptoms may not develop until adulthood. Individuals and parents of affected child will work with their doctors and entire medical team to work out a schedule of what tests need to be done each year to ensure that any potential symptom of the disorder is detect as early as possible.

References
  • Treatment Guidelines. The Tuberous Sclerosis Alliance website. http://www.tsalliance.org/individuals-families/treatment-guidelines/
  • Northrup H, Koenig MK, Pearson DA, et al. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2018 Jul 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1220 Accessed 11JAN2020.

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