Tuberous sclerosis, or tuberous sclerosis complex (TSC), causes noncancerous tumor growth. Symptoms vary but may include behavioral issues, kidney disease, and skin problems.
The symptoms of tuberous sclerosis help determine a person’s outlook. For example, more severe symptoms may indicate that the disease has progressed.
Most people with tuberous sclerosis have a normal life expectancy. However, the individual outlook varies greatly, and there is no cure. Tumors affecting the brain and spinal cord
Read on to learn more about the symptoms of tuberous sclerosis.
Tuberous sclerosis (TSC) is a genetic disease that is present at birth. It
While most people are diagnosed in childhood, milder cases might not be diagnosed until later in life.
The outlook and symptoms vary from person to person, but most people have a normal life expectancy.
TSC symptoms vary significantly.
While adults and children can have similar symptoms, some symptoms are more noticeable in children because they affect development, at-school experiences, and parenting decisions. The most common symptoms include the following:
People with TSC are more likely to have autism, attention deficit hyperactivity disorder (ADHD), learning disorders, and behavioral and emotional issues.
Various studies have estimated an autism rate of
It is estimated that
People with TSC can develop tumors in the kidneys.
Cysts and angiomyolipoma, a type of kidney tumor,
Babies and young children
However, some people develop heart arrhythmias, or an irregular heartbeat.
A note about sex and gender
Sex and gender exist on spectrums. This article will use the terms “male,” “female,” or both to refer to sex assigned at birth. Click here to learn more.
Women with TSC
Lesions can also cause a detached retina, which is when the retina peels away from the back of the eye. This can affect long-term vision.
For example, few children develop confetti skin lesions, which are areas of hyperpigmentation, but more than half of adults have them. Many people also develop skin plaques.
Some people also develop angiofibroma, a type of skin lesion, on their face.
Central nervous system issues
Roughly 80% of people with TSC develop epilepsy or seizures because of brain or spinal cord tumors. TSC seizures
The complications of tuberous sclerosis vary with the organ and organ systems affected. Some complications
- damage to the skin and changes in facial appearance
- damage to the eyes that may affect vision
- kidney disease and kidney failure
- neuropsychiatric symptoms, such as autism, developmental delays, intellectual disability, behavioral problems, and ADHD
- difficulties at work and school because of neurological and behavioral symptoms
- frequent hospitalizations to help manage severe symptoms
- seizures, many of which may not respond to medical treatment
The TSC1 gene produces hamartin, a protein, and the TSC2 gene produces another protein, tuberin. Doctors do not fully understand how these proteins work, but they think they may undermine the activation of the protein mTOR, which causes cell changes during development.
If a parent has TSC, their child has a 50% chance of inheriting the mutation.
There is no evidence of specific lifestyle or environmental factors that lead to the genetic mutation. Rarely, a child may inherit TSC even if their parent does not have it because of mutations in the egg or sperm.
Doctors diagnose TSC
- two major symptoms or
- one major symptom and two minor ones
If a person with symptoms tests positive for the TSC gene mutation, they have TSC. Many people with TSC have a parent with TSC, so they may have genetic testing at birth.
Instead, treatment targets symptoms and may change throughout a person’s life. People with TSC need ongoing testing for tumors and other disease complications. They may need surgery to remove tumors.
It is important that a person contacts a doctor about any symptoms consistent with TSC, including skin symptoms, developmental delays in a child, seizures, or eye problems.
People who know they have TSC should regularly follow up with a healthcare professional. They should tell them about any new symptoms and side effects of TSC medications.
Specific TSC symptoms vary and can change throughout a person’s life.
For example, a child might not develop skin symptoms until later in life, and women with TSC commonly develop lymphangioleiomyomatosis.
TSC symptoms may help guide treatment decisions and inform the outlook.