Tuberous sclerosis complex (TSC) is a genetic condition that affects how your cells divide, causing non-cancerous tumors to grow in various parts of your body, including your skin, lungs, kidneys, heart, and brain. While these tumors are not cancerous, they can still cause problems depending on their location and size.
TSC is caused by a problem in your genes, usually due to changes that occurred during early embryonic development. About one-third of people with TSC inherit the condition from a parent. If one of your parents has TSC, you have a 50% chance of developing the condition.
Symptoms of TSC usually appear shortly after birth, but they can also develop later in life. The severity and type of symptoms depend on the number, size, and location of the tumors. Some common symptoms include:
Skin patches of different colors and growths that resemble warts
Seizures, which can be mild at first
Behavioral changes, such as temper tantrums, anxiety, or sleep problems
Developmental delays and learning disabilities
Breathing difficulties and cough (if tumors are present in the lungs)
Vision problems, such as double or blurry vision (if tumors affect the eyes)
Weakened tooth enamel or overgrown gums (if tumors are present in the mouth)
Diagnosing TSC can be challenging due to the wide range of symptoms. Your doctor will begin by asking about your medical history and any symptoms you have experienced. They may also perform a physical examination, focusing on your eyes and skin. To confirm the diagnosis, your doctor may recommend the following tests:
CT scan or MRI to check for tumors and other changes in your body
Echocardiogram to detect tumors and changes in your heart
Gene tests from a blood sample to confirm the presence of TSC
Treatment for TSC depends on the individual case and the location of the tumors. Some common treatment options include:
Medications to shrink tumors in the brain or kidneys, such as everolimus (Afinitor)
Surgery to remove tumors
Laser treatment (dermabrasion) to smooth skin before tumors become large
Medications to control seizures
Dialysis or kidney transplant (in severe cases of kidney damage)
With proper treatment, most people with TSC can expect a normal life span and lead active, productive, and independent lives. It is essential to maintain regular check-ups with your doctor and report any changes in your symptoms.
Living with TSC can be challenging, but there are ways to manage stress and maintain a good quality of life. Joining a support group, such as those offered by the National Organization for Rare Diseases or the Tuberous Sclerosis Alliance, can help you connect with others facing similar challenges and provide valuable tips for managing symptoms. If you feel overwhelmed or depressed, don't hesitate to seek help from a therapist or counselor recommended by your doctor.
Remember, with the right support and treatment, you can lead a fulfilling life despite the challenges of tuberous sclerosis complex. Stay informed, communicate with your healthcare team, and reach out for help when needed.
Seasonal affective disorder (SAD) is a type of depression that occurs during specific seasons, most commonly during the winter months. If you find yourself feeling down, [...]
Chronic Obstructive Pulmonary Disease (COPD) is a long-term lung condition that makes it hard for you to breathe. It's a progressive disease, meaning it gradually gets [...]
Thyrotoxicosis is a condition that occurs when there is an excessive amount of thyroid hormones in your blood. Your thyroid gland, a small butterfly-shaped organ located in [...]