Tuberous sclerosis complex (TSC) is a rare genetic disorder that causes noncancerous tumors to develop in different organs, including the brain, kidneys, skin, heart, lungs, and eyes. The condition can vary widely in severity, and symptoms may change throughout life. Although there is no cure for TSC, modern treatments can control many complications and help improve quality of life. Regular surveillance and coordinated care across multiple medical specialties are essential for detecting complications early and maintaining long-term health.
Tuberous sclerosis complex is caused by changes in the TSC1 or TSC2 genes. These genes normally help regulate cell growth. When their function is disrupted, abnormal growths called hamartomas can develop in multiple organs.
TSC may affect:
The symptoms and severity can vary considerably between individuals.
Signs of TSC may include:
Some people have mild disease, while others require ongoing care for multiple complications.
Diagnosis may involve a combination of clinical evaluation, imaging, and genetic testing.
Healthcare providers may use:
Early diagnosis allows affected organs to be monitored regularly.
Treatment is based on the symptoms and organs involved.
Possible treatments include:
Treatment plans are individualized according to disease severity.
Seizures are among the most common neurological complications of TSC.
Treatment may involve:
Early management of seizures is particularly important in children because uncontrolled seizures can affect development.
Kidney involvement may cause cysts or tumors that can affect kidney function or increase the risk of bleeding.
Regular kidney monitoring may include imaging and blood pressure checks.
Some adults with TSC may develop a lung condition called lymphangioleiomyomatosis (LAM), particularly women. Pulmonary evaluation and appropriate treatment may help preserve lung function.
TSC can affect learning, behavior, communication, and social development.
Support may include:
Early identification of developmental or behavioral concerns can help provide appropriate support.
Because TSC can affect several organs, regular surveillance is an important part of care.
Monitoring may include:
A multidisciplinary healthcare team can coordinate long-term management.
Prompt medical evaluation may be needed for:
Some symptoms may indicate complications requiring urgent treatment.
Tuberous sclerosis complex is a lifelong genetic disorder that can affect multiple organs and produce a wide range of symptoms. Although there is currently no cure, advances in seizure treatment, mTOR-targeted therapy, surgery, rehabilitation, and supportive care have improved management for many individuals.