What are tuberous sclerosis symptoms?

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Tuberous sclerosis (TSC) is a genetic disease that is present at birth. It causes benign tumors to develop in the brain and spinal cord, as well as several organs, including the kidneys and eyes.

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:

Neuropsychiatric symptoms

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 16–61% among people with TSC. In children, these issues may manifest as disruptive behavior in school, developmental delays, late speech, poor grades, and delayed developmental milestones.

It is estimated that more than 90% of adults and children with TSC experience emotional, behavioral, or developmental issues, but just 20% receive treatment for these issues.

Kidney disease

People with TSC can develop tumors in the kidneys.

Cysts and angiomyolipoma, a type of kidney tumor, may damage the kidneys. They can cause polycystic kidney disease.

About 80% of children with TSC have at least one kidney lesion by the average age of 10 and a half. Kidney disease is the second leading cause of TSC-related death.

Heart symptoms

Babies and young children often have heart rhabdomyoma, a type of heart growth. These growths typically shrink with age and do not cause complications in adulthood.

However, some people develop heart arrhythmias, or an irregular heartbeat.

Lung symptoms

Women with TSC are more likely to develop the lung disease lymphangioleiomyomatosis, which causes abnormal growths in the lungs. By age 40, as many as 80% of women with TSC receive this diagnosis.

Eye issues

People may develop a wide range of eye lesions. In some people, these lesions can lead to glaucoma, a condition that can cause vision loss.

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.

Skin issues

Most people with TSC develop skin symptoms. The specific skin manifestations can differ by age.

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

Tumors affecting the central nervous system can cause difficulties with daily functioning and serious health problems. These tumors are a leading cause of death among people with TSC.

Roughly 80% of people with TSC develop epilepsy or seizures because of brain or spinal cord tumors. TSC seizures may not respond to seizure medication.

The complications of tuberous sclerosis vary with the organ and organ systems affected. Some complications include:

• 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

A mutation in the TSC1 or TSC2 gene causes TSC.

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 based on the presence of either:

• 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.

There is no cure for TSC and no specific medication or treatment that works for all people with the condition.

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.