Tuberous Sclerosis – Everything You Need to Know

Tuberous Sclerosis is a multi-system genetic condition that affects many organs and causes non-malignant tumors on the skin, kidneys, brain, heart, eyes, lungs, teeth, mouth, and other organs. The severity of TSC can range from mild to severe, even within the same family where more than one member has Tuberous Sclerosis. Diagnosing the condition, as well as assessing those at risk, requires careful examination of the skin, heart, eyes, brain, lungs, and kidneys, along with a genetic test.

The prevalence of the condition is 1 in 6,000 births. This estimate suggests that about a million people worldwide suffer from the condition, with over 1,000 in Israel. The prevalence is the same among men and women and across different ethnic backgrounds. Individuals may be diagnosed at any age, depending on the symptoms they exhibit. Diagnosis can follow the appearance of distinctive skin spots, but in most cases, it is due to the onset of prolonged, frequent epileptic seizures.

How is Tuberous Sclerosis Diagnosed?

A clinical diagnosis of Tuberous Sclerosis is based on a thorough physical examination combined with imaging tests.

CT scans or MRI are conducted to identify characteristic findings in the brain. High-resolution CT of the lungs or MRI of the liver and kidneys can assist in diagnosing tumors or cysts in these organs. Doctors will carefully examine the skin and look for a variety of dermatological manifestations such as skin tags in various parts. Genetic testing can determine whether and which mutation occurred in one of the two genes causing TSC. This information can be beneficial on several levels. In some cases, identifying a mutation will help with a precise diagnosis of TSC in people who have not yet developed enough symptoms for a clinical diagnosis. Genetic tests for the condition can now be conducted to confirm a clinical diagnosis and identify if there is a mutation causing the disease.

Treatment Methods

Patients with Tuberous Sclerosis Syndrome suffer from severe seizures that are resistant to medication. Some seizures are life-threatening and lead over time to developmental and cognitive issues. Existing treatments offer only a partial solution to severe seizures.

This week, the American Food and Drug Administration, the FDA, approved the use of Epidiolex by GW Pharmaceuticals for treating medication-resistant seizures resulting from Tuberous Sclerosis (TSC).

Epidiolex was approved last year for treating patients aged two and older with medication-resistant seizures associated with Dravet syndrome and Lennox-Gastaut syndrome. These are two severe epilepsy syndromes in which patients suffer from long, persistent seizures that cause developmental and cognitive issues. Due to the extensive research and high efficacy of Epidiolex in preventing seizures, the drug has been approved for Tuberous Sclerosis as well..

Tuberous Sclerosis and COVID-19

The COVID-19 pandemic in Israel brings challenges and concerns for everyone, but particularly for children and adults with chronic conditions like Tuberous Sclerosis, some of whom are also on medication. It is important to consult the treating physician about necessary precautions.

Dr. Michal Tzadok is the head of the Tuberous Sclerosis Clinic at Tel Hashomer.