Last Updated 05/07/2020
Authors:J. Shirine Allam, MD, FCCP; Samantha D’Annunzio, MD; Nikita Desai, MD
About Tuberous Sclerosis
Key facts about Tuberous Sclerosis
- Tuberous sclerosis (TS) is a disease that affects many organ systems. The severity of the disease varies from person to person.
- The hallmark of TS is abnormal tissue growth. The most common organs affected are the brain and the skin.
- Currently, there is no way to prevent or cure TS, although medications and treatment options are available.
Tuberous sclerosis (TS) is a rare genetic disorder in which benign (noncancerous) tumors grow throughout the body. TS affects approximately 1 in 6000 people, and almost 1 million people live with this disease worldwide. Men and women are affected equally, although lung involvement is more common in women.
These growths can appear in any organ in the body, but they most commonly affect the skin, kidneys, and brain. Because the growth can appear anywhere, each person with the disorder can have unique symptoms.
How TS affects your body
How serious is TS?
Many people with TS have regular jobs and live healthy, normal lives. However, those patients who have tumors in the brain, kidney, or heart have the highest risk for serious health complications. Brain-related problems include hydrocephalus and epilepsy. Patients who have tumors in the heart can have cardiac disease, including irregular heart rhythm, which appears in infancy. Kidney disease can require surgery and, less commonly, the development of cancerous lesions. Treatments can help prevent the growth and spread of tumors, but there is no cure for TS.
Most patients with TS have skin tags, blebs (blisters filled with fluid), and small growths on the surface of their body, especially on their face and hands. The most life-altering symptoms of TS involve the brain. Mild neurologic symptoms include:
- Behavioral problems
- Delayed development
- Mental retardation
In severe cases of TS in the brain, growths called subependymal giant cell astrocytomas (SEGAs) can block the normal passage of cerebrospinal fluid and cause swelling in the brain (hydrocephalus).
Growths in or on other organs, such as the kidneys, may become so large that must be surgically removed. Tumors can develop in the heart, eyes, bones, liver, stomach, and intestines, leading to complications. In women with TS, a rare disease called lymphangioleiomyomatosis (LAM) leads to the development of cysts within the lungs.
What causes TS?
In one-third of patients, TS is caused by a genetic mutation that they inherited from one of their parents. If one parent has the disorder, there’s a good chance that his or her child could have it, too. For the other two-thirds of patients with TS, the disorder is caused by a spontaneous genetic mutation that occurs as the fetus is developing.
Symptoms of TS
Like many genetic disorders, TS is usually diagnosed in childhood. Because the symptoms are different for each patient, diagnosis of TS in a child can lead to diagnosing a mild, previously undetected form of the disorder in that child’s parent.
The earliest symptoms of TS— heart and brain tumors—can be detected by prenatal ultrasound (ultrasound of the baby when it’s still in the mother’s womb). In early childhood, symptoms include:
- Infantile spasms
- Mental retardation
- Developmental delay
- Skin tags, called angiofibromas, on the face and hands
- Light-colored skin patches on the trunk and extremities, called ash leaf spots
- In severe cases, blood in the urine caused by tumors in the kidneys
- Difficulty breathing
- Complications caused by increased pressure in the brain
What are the risk factors for TS?
A parent with TS has a 50% chance of passing the disorder on to his or her child. No known risk factor can make someone susceptible to developing TS.
TS is diagnosed on the basis of patient symptoms. Health care providers uses a set of major and minor criteria to make the diagnosis. Your provider may also refer you for genetic testing, but such testing is not required.
When should you see your health care provider?
If you have TS, you should see your provider throughout your life. Schedule regular appointments with your primary care physician to coordinate care. Because of the complexity of TS, specialists are often part of the health care team. These specialists include
- Neurologists (doctors who specialize in the nervous system)
- Ophthalmologists (doctors who specialize in the eyes)
- Nephrologists (doctors who specialize in the kidneys)
- Urologists (doctors who specialize in the urinary tract, such as the bladder)
- Pulmonologists (doctors who specialize in the lungs)
- Dermatologists (doctors who specialize in the skin)
After diagnosis, consider genetic counseling to see if the disorder could affect your children or other family members.
What to expect
If you have been diagnosed with TS, you will need to see your provider throughout your life. You will need to have regular blood tests, computed tomography (CT, or “CAT”) scans, and magnetic resonance imaging (MRI) scans to check for new or growing tumors. Depending on which organs are affected, more specific monitoring or even surgery may be necessary. Your provider may prescribe medications or refer you to other specialists to help control your symptoms.
How is TS diagnosed?
Most patients are diagnosed with TS following seizures in early childhood. TS can also be diagnosed when prenatal ultrasound detects a heart tumor called a rhabdomyoma or a brain tumor called a cortical tuber. Tests used to look for TS tumors include:
- Electroencephalograms (EEGs), which measure the electrical activity in the brain
- MRI of the brain and abdomen
- Ultrasound of the kidneys
- Lung function tests
- Skin biopsies
- Genetic testing
- Neurocognitive and psychiatric testing to determine the extent of brain involvement
- Eyes and vision testing
- LAM screening (all women diagnosed with TS)
Treatment for TS is tailored to each patient based on where his or her tumors are located.
Tumors in the brain can cause seizures, which are treated with antiseizure medications and epilepsy surgery. Behavioral therapy and modification are helpful in treating behavioral disorders and autism. Children with TS may need special education. Patients with SEGAs need to be monitored closely for signs of increased fluid building up around the brain. If the brain swells too much, a surgeon may need to place a shunt to help drain the fluid and relieve the pressure.
Some tumors in the brain, heart, and kidneys may need to be surgically removed.
If the lungs are involved, such as with LAM, and lung function is affected, certain medications can help prevent lung function from getting worse. Even with medication, however, lung function can continue to get worse; for these patients, their health care provider may recommend a lung transplant. In addition, 2 antitumor medications—sirolimus and everolimus—may help prevent the growth of tumors. Your provider will determine whether one of these medications may be right for you.
Living with TS
Many people with TS can live normal lives with normal lifespans. However, more serious forms of the disorder may require regular doctor appointments and tests and can lead to frequent hospitalizations.
Your provider will work closely with you to manage the symptoms of your disorder. He or she may also refer you to other specialists. There’s no cure for TS, but there are treatment options. If you’re a woman who has been diagnosed with LAM, your provider should refer you to a center that specializes in the care of patients with LAM.
- Mayo Clinic: Tuberous sclerosis
- National Institute of Neurologic Disorders and Stroke: Tuberous sclerosis
- Tuberous Sclerosis Alliance: What is TSC?
- Tuberous sclerosis
Questions to ask your health care provider
- How serious are the cardiac rhabdomyomas? Will these tumors cause heart problems?
- Do all patients with TS have developmental problems?
- Will the tumors in my brain ever go away? Could they come back or get bigger?
- Could I die from TS?
- How often will I need to get tests?
- Do I have a genetic mutation?
- Can I have TS even if I don’t have a genetic mutation?
- Does having TS tumors mean that I have cancer?
- Can TS tumors spread to other parts of my body?
- Could I pass TS on to my children?
- What kind of birth control is safe for me to take?
- What kind of medications should I be taking for TS?
- What are the side effects of taking these medications?
- Could my neurologic symptoms get worse?
- When do I need to be checked for LAM?
- Are there any changes I can make in my diet or lifestyle to help manage my symptoms?
- Are there any clinical trials I can participate in to treat my symptoms and help others with TS?