Tuberous Sclerosis Complex (TSC)
If you have tuberous sclerosis complex (TSC), your cells don’t stop dividing when they should. This means you get tumors in lots of places in your body. They aren’t cancer, but they can cause problems where they’re growing. There are treatments available that can shrink the tumors and make you more comfortable.
Every case is different. You might get TSC in certain parts of your body, and TSC might affect someone else differently. The tumors can look like thick or light patches on your skin, and if they’re in your lungs, they can cause breathing problems.
Treatments can help you manage your symptoms and live an independent life.
Between 1 million and 2 million people around the world have this condition.
You get TSC because of a problem in your genes. For most people, it’s caused by changes that happened when your cells were first coming together or when you were just an embryo.
About a third of people inherit TSC from a parent. If one of your parents has it, you have a 50% chance of getting it.
Symptoms usually show up early, shortly after birth. But they can also appear later in life.
Your symptoms depend on how many tumors you have, how big they are, and where they are. When you have TSC, all of that can change throughout your life.
Tumors in a kidney can stop it from working like it should. They can also cause bleeding inside your body or high blood pressure.
Tumors in your heart usually happen when you’re young, and they shrink over time. But they can block blood flow or cause problems with your heart rhythm.
Lung tumors can make you short of breath, even after mild exercise. They can also cause a cough or make your lung collapse.
Tumors in your brain could cause:
Tumors in your eyes can make you see double or give you blurry vision.
In other places in your body, you may have patches of different color skin and dark or light growths that might look like warts.
In your mouth, tuberous sclerosis can weaken the enamel on your teeth or make your gums overgrow.
With so many different symptoms, diagnosing this condition can be tricky.
Your doctor will talk with you before doing any testing, asking questions such as:
Your doctor may check your eyes and skin, as well as ask you to get imaging tests. These can include:
Your treatment will depend on your particular case. Doctors target the places where the tumors are growing.
If TSC is affecting your kidneys, doctors may be able to block or reduce blood flow to kidney tumors, or give you drugs to help shrink them. You may need surgery to remove the tumors. At some point, you may also need dialysis or a kidney transplant.
If you have tumors in your brain, sometimes drugs can shrink them, or surgeons can remove them.
The drug Afinitor (everolimus) is approved by the FDA to treat specific types of brain and kidney tumors caused by TSC, too.
When a child with seizures gets treated, it helps their brain develop, and he can learn better.
Some people with lung problems from TSC take the drug sirolimus, which works on your immune system.
Laser treatment (dermabrasion) can help “refinish,” or smooth your skin before tumors become large.
Having a disease like TSC can be tough, so find ways to reduce your stress and keep doing the things you love. If your child has TSC, remember he’s still a little one. Let him be a child.
Pay close attention to changes in your body, and tell your doctor about them. Keep up with your treatment, and make regular visits to your doctor, letting them know about anything that concerns you.
Talk with your family and friends about the condition. They’ll want to know how they can support you. Ask them for things you need, as they may not know what’s most helpful for you.
Joining a support group can help you manage better. Hearing from other people and families who face similar challenges can help you understand what’s going on and make you feel connected. They can also offer tips for dealing with symptoms.
If you feel overwhelmed or depressed, ask your doctor if he can recommend a therapist or counselor who can help you.
Although there isn’t a cure for TSC, your doctors can help you avoid problems.
With the right treatments, most people with TSC can expect a normal life span. Many have active, productive, independent lives.
The National Organization for Rare Diseases or the Tuberous Sclerosis Alliance can help you find a TSC clinic and an online or local support group.
SOURCES:
Tuberous Sclerosis Alliance: “Signs of TSC,” “What Is TSC?” “Lung Involvement,” “Brain Involvement,” “Kidney Involvement,” “Skin Involvement,” “Eye Involvement.”
Tuberous Sclerosis Association: “An Introduction to Tuberous Sclerosis Complex.”
NINDS: “Tuberous Sclerosis Fact Sheet.”
NIH Genetics Home Reference: “Tuberous sclerosis complex.”
Boston Children’s Hospital: “Tuberous Sclerosis (TSC).”
NORD: “Tuberous Sclerosis.”
FDA: “Everolimus for Tuberous Sclerosis Complex (TSC).”
Angiogenesis Foundation: “Angiogenesis inhibitor found effective for treating brain tumors in children with genetic disease; accelerated FDA approval follows study results.”
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