For US residents only.

FAQs

Find answers to the most common questions related to tuberous sclerosis complex (TSC). This information can help you and your family understand the condition and learn how to treat its signs and symptoms.

Expand all

Tuberous sclerosis complex (TSC) is a lifelong condition. TSC causes noncancerous tumors in different parts of the body, but they can create serious complications if they are not watched and treated.

Tumors can grow in different parts of the body. Some people have mild symptoms and some are more severe. Each person is different. Tumors can grow in your brain, kidneys, skin, lungs, heart, eyes, and teeth. These tumors are not cancerous, but they can cause serious complications if they grow too large. It is important to watch them and talk with your doctor about how to treat them.

There are about 20,000 genes in everyone’s body. Each person has genes called TSC1 and TSC2. These genes make proteins to control mammalian target of rapamycin (mTOR) and cell growth.

People with TSC have a defect in TSC1 and TSC2, so their bodies do NOT make proteins to control mTOR. Cells grow out of control, and tumors or seizures can happen.

Tuberous sclerosis complex (TSC) is more common than you may think. In fact, more people have TSC than some other diseases you may have heard of.

There are about 50,000 people living with TSC in the United States. That’s more than people living with cystic fibrosis, Huntington’s disease, or ALS.

graphic of other diseases visually depicting how many more TSC has

ALS, amyotrophic lateral sclerosis; also called Lou Gehrig’s disease.

There is no treatment for TSC itself. Rather, doctors treat each affected place in the body. With advances in research, there will continue to be new and innovative treatment options available. Your treatment plan will be based on your individual case.

Tracking your signs and symptoms can make you feel that you are in control. It can also help your doctor treat them. Print this TSC Symptom Tracker to help you keep track of all your TSC signs and symptoms. Write notes and questions. Then bring it to your next doctor appointment.

Your doctor is there to help you. Building a good relationship with him or her is very important. Print this guide and get ready to talk with your doctor. It has tips on what to talk about and useful questions to ask. Write notes and questions on it and bring it to your next doctor visit.

Genetic testing can provide more information if you have TSC. Genetic testing can:

  • Give your doctor more information on your TSC
  • Help your family know if they also have TSC

TSC affects places in the body at different times. No 2 people have the same symptoms. Look below to see common ages when tumors could appear.

Image of age at which symptoms may develop

SEGAs, subependymal giant cell astrocytomas; SENs, subependymal nodules.

TSC can cause tumors to grow in different places in your body. That's why you should make sure to see these doctors at least once a year to have a full checkup:

  • Neurologist (doctor for the brain and the nervous system)
  • Nephrologist or urologist (doctors who take care of the kidneys)
  • Dermatologist (a skin doctor)
  • Pulmonologist (a doctor who deals with lung issues)
  • Cardiologist (if you have a baby with TSC who has heart problems)
  • Ophthalmologist (an eye doctor)
  • Dentist (a doctor who deals with the care of the teeth and gums)

Not all doctors are experts in TSC, so make sure you ask the office staff about their TSC experience before making your first appointment.

A TSC Center is a clinic where there is at least one doctor who is very knowledgeable about TSC. Often, TSC Centers can help you monitor and treat many of your TSC symptoms, such as kidney, brain, and skin issues. To see if there is a TSC Center close to you, visit https://www.tsalliance.org/individuals-families/tsc-clinics/

TAND stands for TSC-associated neuropsychiatric disorders. It is a single term that brings together the different brain issues someone with TSC might have, including:

  • Behavioral problems such as tantrums, poor eye contact, or mood swings
  • Psychiatric problems, such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, depression, or anxiety
  • Intellectual problems, such as low IQ
  • Difficulty in school with reading, writing, spelling, or math
  • Social concerns such as aggression

A neurologist who knows about TSC can give you or your child a 10-minute TAND Checklist test to see what particular concerns are present.

TSC is a genetic condition that results from a defect in 1 of 2 genes, TSC1 or TSC2. About 1 in 3 people with TSC inherited it from a parent. Other times, the DNA change occurs spontaneously. If you have TSC, there is a 50% chance that you will pass it to your child. And if you have one child with TSC, there is a higher chance that your other children will have it, too. Unfortunately, there is no way to predict the severity of TSC problems a child might have.

Not only is it normal, but it is also very understandable. TSC can have a huge impact on people's lives. It can lead to very high levels of stress in families, especially between siblings. It can also lead to a lot of stress between parents, causing relationship problems. If you find this happening in your family, speak up. Ask your doctor how you can get support. Your doctor might recommend that your child, you, or even the whole family seek counseling support. Remember to go easy on yourself and understand that you are doing the best you can.

TSC appears to act randomly, affecting some people in a very severe way and others more mildly. For example, some people may have many health concerns and disabilities, while others have fewer. Scientists have learned that a reason for this is whether you have a defect in the TSC1 gene or the TSC2 gene.

Recent studies suggest that the TSC2 gene mutation can cause more (and more severe) health issues.

Health concerns that are more common and more severe if you have a TSC2 defect include:

  • Seizures
  • Intellectual disabilities
  • Number of brain tumors
  • Number of kidney tumors
  • Some skin concerns
  • Lung tumors
  • Cardiac issues
  • Eye tumors

The only way to know if you or your child has a TSC1 or TSC2 mutation is to get a genetic test. If you are interested, ask your doctor for more information about the test and to see if your health insurance will cover it.

Use of website is governed by the Terms of Use and Privacy Policy.

Copyright © 2018 Novartis Pharmaceuticals Corporation. All rights reserved.

10/18 AGM-1197962