What is Tuberous Sclerosis?
Tuberous sclerosis (TS) is a rare genetic disorder in which benign tumors grow throughout the body. It affects approximately one in 6,000 births, and almost one million people are estimated to live with this disease worldwide. Men and women are affected equally, although lung involvement is more common in women.
- Tuberous sclerosis is a disease that affects multiple organ systems, and the severity of the involvement can vary from person to person.
- The hallmark of tuberous sclerosis is abnormal tissue growths. The most common organs involved are the brain and the skin.
- Currently, there is no way to prevent or completely cure the disease; however, there are available medications and treatment options.
Because of a genetic mutation, tuberous sclerosis causes noncancerous growths in the body. Any organ of the body can be involved, but the most commonly affected are skin, kidney, and brain. These growths can lead to a host of varying complications. Each person afflicted with the disease may have different presentations and symptoms.
How It Affects Your Body
Almost all patients have skin involvement. Skin tags, blebs, and small growths can form anywhere on the surface of the body, especially on the face and hands. The most life-altering symptoms of tuberous sclerosis are those that involve the brain. Mild neurologic symptoms may be autism, behavioral problems, or delayed development. Severe disease can include seizures and mental retardation. Subependymal giant cell astrocytomas(SEGA) are growths in the brain that can block the normal passage of cerebrospinal fluid and cause swelling in the brain (hydrocephalus). Growths on other organs, such as the kidneys, may become very large requiring surgical resection. Lymphangioleiomyomatosis (LAM) is a rare lung disease that affects women with tuberous sclerosis and leads to the development of cysts within the lungs. In addition, tumors can develop in the heart, eyes, bones, liver, stomach, and intestine, leading to complications.
How Serious Is Tuberous Sclerosis?
Many people with tuberous sclerosis have regular jobs and live healthy, normal lives. However, those with brain, kidney, or heart involvement have the highest risk for morbidity and mortality. Brain complications include hydrocephalus and epilepsy. Cardiac disease may include irregular heart rhythm and is most prominent in infancy. Kidney disease can require surgery and, less commonly, the development of cancerous lesions. Although there is therapy to help prevent the progression of the disease, there is no cure available.
Symptoms, Causes, and Risk Factors
Like many genetic diseases, tuberous sclerosis is usually diagnosed in childhood. Because the disease presentation varies greatly, sometimes a diagnosis of tuberous sclerosis in a child can lead to diagnosing a mild, previously undetected form of the disease in a parent.
The earliest symptoms of tuberous sclerosis can be detected by prenatal ultrasound and are heart and brain tumors. In early childhood, the findings of infantile spasms, seizures, mental retardation, developmental delay, or even autism may be due to tuberous Ssclerosis. Skin tags, called angiofibromas, can show up on the face and hands, and light-colored skin patches on the trunk and extremities, called ash leaf spots, can be present. More severely, some may initially present with bleeding in the urine or kidneys, difficulty breathing, or complications of increased pressure in the brain.
Tuberous sclerosis is caused by a genetic mutation that is usually inherited from a parent. If one parent has the disease, there is a good chance the child could also have the disease. The other two thirds of Tuberous Sclerosis cases are from a spontaneous genetic mutation that occurs very early in embryonic development.
A parent with tuberous sclerosis has a 50% chance of passing the disease on to their child. Those who develop the disease sporadically likely have a “second hit” phenomenon. There is no identifiable risk factor making someone susceptible to developing tuberous sclerosis.
When to See Your Doctor
Patients with tuberous sclerosis should see their doctor lifelong and have regular appointments with a primary care doctor to coordinate care. Due to the complexity of the disease, specialists are often part of the care team and include neurologists, ophthalmologists, nephrologists, urologists, pulmonologists, and dermatologists. After diagnosis, genetic counseling is recommended to see if the disease could affect your children or other family members.
Diagnosing and Treating Tuberous Sclerosis
Tuberous sclerosis is a clinical diagnosis that is determined by patient symptoms and signs. A series of major and minor criteria are used to make the diagnosis. Your doctor may also want to obtain genetic testing, but this is not required.
What to Expect
Once you are diagnosed with tuberous sclerosis, you will need to see your doctor regularly throughout your life. You will have periodic blood tests, CT scans and MRIs to check for new or worsening manifestations of the disease. Depending on which organs are involved, more specific monitoring or sometimes surgery may be necessary. Your doctor may want to start giving you medications to take or refer you to other specialists to help control your disease.
How It’s Diagnosed
Most patients are diagnosed with tuberous sclerosis after presenting with seizures in early childhood. Tuberous sclerosis can also be diagnosed by prenatal ultrasound by detection of a heart tumor called a rhabdomyoma, or a brain tumor called a cortical tuber. Testing for tuberous sclerosis can involve EEGs, an MRI of the brain and abdomen, ultrasound of the kidneys, echocardiography, pulmonary function testing, skin biopsies, and even genetic testing. Neurocognitive and even psychiatric testing can be useful for determining the extent of brain involvement. You may need your eyes and vision examined. All women diagnosed with tuberous sclerosis need to be periodically screened for lung involvement (LAM).
How It’s Treated
Treatment for tuberous sclerosis is tailored to control the specific manifestations of the disease.
Brain involvement can cause seizures that are treated with anti-seizure medications and epilepsy surgery. Behavioral therapy and modification are helpful in treating behavioral disorders and autism. Children with tuberous sclerosis may need special accommodations for their schooling needs. Patients with SEGA need to be monitored closely for signs of increased fluid building up around the brain. If the brain swells too much, surgeons may need to place a shunt to help drain the fluid and release the pressure.
Some tumors in the brain, heart, and kidneys may need surgical resection.
If the lungs are involved with LAM and lung function is compromised, certain drugs can help prevent worsening of the condition. However, lung function may continue to deteriorate, and your doctor may refer you for a lung transplant evaluation.
There are two anti-tumor medications, sirolimus and everolimus, that can be used to help prevent the growth of tumors. Your doctor will determine if you have an approved condition that can be treated with this medication.
Living With Tuberous Sclerosis
- Many people with tuberous sclerosis can live normal lives with normal lifespans. However, more serious forms of the disease can require regular doctor appointments, tests, and can lead to frequent hospitalizations.
- Your doctor will work closely with you to manage the symptoms of your disease. You may be referred to other specialists. While there is no cure for tuberous sclerosis, there are treatment options available to you, if needed. Those who have lymphangioleiomyomatosis (LAM) should be referred to a center specialized in the care of patients with LAM.
How tuberous sclerosis affects your body is variable, and the disease can range from mild to severe. You will require lifelong monitoring to check for new manifestations of the disease. There are several treatment options that can help control the disease.
- Mayo Clinic: Tuberous sclerosis (http://www.mayoclinic.com/health/tuberoussclerosis/DS01032)
- National Institute of Neurologic Disorders and Stroke: Tuberous sclerosis information page (http://www.ninds.nih.gov.proxy.library.emory.edu/disorders/tuberous_sclerosis/tuberous_sclerosis.htm)
- Tuberous Sclerosis Alliance: What is TSC? (http://www.ntsa.org/pages.aspx?content=2) org:
- Tuberous sclerosis (http://familydoctor.org/familydoctor/en/diseasesconditions/tuberoussclerosis.html)
Questions to Ask Your Doctor About Tuberous Sclerosis
- How serious are the cardiac rhabdomyomas? Will these tumors cause heart problems?
- Will all patients with tuberous sclerosis have developmental problems?
- Will the tumors in the brain ever go away? Could they come back or get bigger?
- Could I die from tuberous sclerosis?
- Could the lesions in my brain grow?
- How often will I need to get tests?
- Do I have a genetic mutation?
- Do I have tuberous sclerosis even if I don’t have a genetic mutation?
- Does having tuberous sclerosis tumors mean I have cancer?
- Can tuberous sclerosis tumors spread to other parts of the body?
- Could I pass this disease on to my children?
- What kind of birth control is safe for me to take?
- What kind of medications should I be taking for tuberous sclerosis?
- What are the side effects of taking these medications?
- Could my neurologic symptoms progress?
- 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 tuberous sclerosis?
J. Shirine Allam, MD, FCCP
Samantha D’Annunzio, MD
New York University
Nikita Desai, MD
Date Last Reviewed