tuberous sclerosis complex

What is Tuberous Sclerosis Complex?

Tuberous Sclerosis Complex (TSC) is a rare, multi-system genetic disorder that causes noncancerous tumors to grow in the brain and other vital organs such as the heart, lungs, kidneys, and skin. It affects about 50,000 people in the United States alone and approximately one million people worldwide.

TSC is caused by a mutation or deletion of the TSC1 and TSC2 genes. It is an autosomal dominant disorder, meaning a person only needs one mutation in one of the genes to be diagnosed. While this genetic disease affects people of all ages and walks of life, it is sometimes diagnosed as early as in the fetal stage.

What are the Symptoms of Tuberous Sclerosis Complex (TSC)?

TSC affects different people in different ways, and the severity of symptoms can vary greatly. The most common symptoms include:

• Seizures and epileptic encephalopathy
• Developmental delays
• Mental retardation
• Hypomelanotic macules (noncancerous white spots on the skin)
• Shagreen patches (skin thickening and dimpling)
• Facial neurofibromas (benign tumors on the face or head)
• Cardiac rhabdomyomas (benign tumors on the heart)
• Lymphangioleiomyomatosis (LAM)
• Kidney angiomyolipomas (benign tumors on the kidneys)
• Cognitive difficulties
• Behavioral issues
• Social problems

Treatments and Management for Tuberous Sclerosis Complex (TSC)

The treatments and management of TSC depend on individual patient needs, and could include:

• Seizure medications
• Surgery to remove benign tumors
• Genetic counseling
• Ongoing monitoring and evaluations by a team of experts
• Rehabilitative therapies (e.g., physical, occupational, speech-language)
• Nutrition monitoring and support
• Behavioral and educational interventions

Coping with Tuberous Sclerosis Complex (TSC)

Living with a chronic condition is never easy, and those who have TSC may face many challenges as they navigate their daily life. Below are some tips to help manage the condition and live as normal a life as possible:

• Stay organized — Create a management system that keeps track of tests, appointments, and medications. Enlist the help of family and friends.
• Create a care team – Assemble a team of healthcare providers who specialize in the different aspects of TSC. This should include primary care, neurology, genetics, psychiatry, pulmonary and cardiology specialists.
• Be informed — Learn as much information as possible about the disorder. This will give patients a sense of control and help them to manage their health better.
• Manage Stress — A diagnosis of TSC can be difficult to manage. Developing stress management strategies, learning relaxation methods, and seeking out support are the best ways to cope.
• Keep a positive mindset — By maintaining a positive outlook, patients will be able to better manage their condition. Find a support group or join an online discussion group for extra help.