What Is Tuberous Sclerosis Complex?

Tuberous sclerosis complex, commonly referred to as TSC, is an incurable genetic disorder that can have devastating effects on many areas of the body. This type of genetic disorder may be inherited from a parent or may be caused by a spontaneous genetic mutation. While the symptoms and severity of tuberous sclerosis complex may vary widely from patient to patient, the development of tumor-like growths throughout the body are a defining symptom of this condition. Other complex symptoms may include seizures, autism, or mental retardation. Even though there is no cure for this disorder, individual symptoms may be treated with prescription medications or surgical intervention.

The presence of benign, or non-cancerous, cysts or tumors are among the most common symptoms of tuberous sclerosis complex. These abnormal growths may appear anywhere in the body, although they are most frequently found in the kidneys, brain, and skin. In some cases, additional symptoms, such as developmental delays, seizures, or various skin abnormalities, may be present. Depending on the severity of the disorder and the location of the cysts, symptoms may be so mild that the patient is unaware of having the condition, or severe or life-threatening complications may arise.

Kidney cysts are present in the majority of patients who have tuberous sclerosis complex. These cysts may crowd out healthy tissue and cause one or both kidneys to stop functioning properly. When this occurs, dialysis or a kidney transplant may eventually become necessary in order to save the life of the patient. These cysts may occasionally bleed, leading to potential complications, such as anemia or severe blood loss. Any questions or concerns about tuberous sclerosis complex or potential treatment options for an individual situation should be discussed with a doctor or other medical professional.

Brain tumors may occur as a result of tuberous sclerosis complex. If these tumors grow large, they may inhibit the normal flow of fluids within the brain, leading to symptoms such as headaches or blurred vision. Cysts on the heart are particularly dangerous among infants and young children, as they can block the flow of blood and potentially cause death. If the child survives, these cysts generally decrease in size over time, so the risks of death are lowered with age. Tumors on the eyes often appear as white spots on the retina but do not usually cause any type of visual disturbances.