Tuberous Sclerosis Complex

Tuberous sclerosis complex is diagnosed based on a combination of clinical features or genetic testing. In 2021, the International Tuberous Sclerosis Complex Consensus Group reviewed prevalence and specificity of TSC-associated clinical manifestations and updated the TSC diagnostic criteria published in 2013. A summary of the updated diagnostic criteria outlined by the TSC Alliance is as follows: (Table as above)

In about 15% of tuberous sclerosis complex patients, no disease-causing (pathogenic) variant is found in either TSC1 or TSC2 gene. This means that a negative genetic testing result does not rule out tuberous sclerosis complex. On the other hand, if a meaningful pathogenic variant is identified, the diagnosis of tuberous sclerosis complex can be definitively confirmed.

Although there is no complete cure for tuberous sclerosis complex, various treatments are available to manage symptoms, slow disease progression, and improve quality of life. Considering the multisystemic involvement of tuberous sclerosis complex, a multidisciplinary approach tailored to each patients is needed. Recent advancements in genetic researches have made the development of medications altering the course of the disease. There are disease-modifying therapies, mTOR inhibitors (everolimus and sirolimus) to blocks the mTOR pathway, which is the pathomechanism of tuberous sclerosis complex. In patients with epilepsy, administration of antiseizure medications is essential for seizure control and epilepsy surgery is also considered when seizures are not controlled with antiseizure medications. For tumorous conditions that occur in the lungs, kidneys, or brain, regular screening using imaging tools is recommended. If tumors are detected, medical or surgical treatments can be provided depending on that affected organs.