Tuberous sclerosis medical therapy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]

Medical therapy is generally preferred over surgical ones due to their fewer number of complications and diminishing side effects over time.

• Anti-seizure medications can be prescribed to control seizures. The preferred medication is vigabatrin^[1], but other anticonvulsants, clobazam, ketogenic diet, or surgical procedures.^[2] Treatment before the onset of epilepsy and other neuropsychiatric manifestations may be beneficial, but trials testing this approach are still ongoing (EPISTOP trial). mTOR inhibitors may present with some anti-epileptogenic properties.^[2]

• Sirolimus should be used in women presenting with TSC-associated lymphangioleiomyomatosis or sporadic LAM with <70% of the predicted normal FEV1. Everolimus has also been show to improve these patients’ condition.^[2]

• Treatment is done in a pre-emptive manner to prevent bleeding, reduce tumor size or slow its growth. Systemic everolimus is the preferred method nowadays but there are also surgical options. ^[2]

• Treatment with mTOR inhibitors have been recommended, being well tolerated and presenting with side effects that decreases over time.^[2] There are also surgical procedures but they have important complications.

• There are no specific interventions, patients must be followed closely by a psychiatrist. Trials exploring the use of mTOR inhibitors for this manifestation are ongoing.^[2]

For TSC-associated skin lesions, the following treatments may be performed:

• Sun protection;
• “Camouflage make-up”
• Topical mTOR inhibitors.
• There are surgical options and ablation.

mTOR inhibition therapy may cause stomatitis, diabetes, hyperlipidemia, wound-healing complications, infertility and delayed sexual maturation.^[2]