Tuberous sclerosis medical therapy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Medical Therapy

Epilepsy

• Anti-seizure medications can be prescribed to control seizures. The preferred medication is vigabatrin, but other anticonvulsants, clobazam, ketogenic diet, vagal nerve stimulation or surgical resection of CNS lesion responsible for the epilepsy. 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.

Lymphangioleiomyomatosis

• 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.

Angiomyolipoma

• Treatment is done in a pre-emptive manner to prevent bleeding, reduce tumor size or slow its growth. Percutaneous embolization (which may present with postembolization syndrome), systemic everolimus (preferred method) and nephron-sparing surgical resection are possible treatments.

Subependymal Giant Cell Astrocytoma

• Surgical resection is the most performed treatment, but may complicate with incomplete resection, hemorrhage, infection and cerebrospinal fluid obstruction. Due to these complications, treatment with mTOR inhibitors have been recommended, being well tolerated and presenting with side effects that decreases over time.

Tuberous Sclerosis Complex-associated Neuropsychiatric Disorder

• 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.

Skin Lesions

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

• Sun protection;
• Ablation with pulse laser dye or CO2;
• Surgery
• "Camouflage make-up"
• Topical mTOR inhibitors.

mTOR Inhibitors side effect:

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