Tuberous sclerosis medical therapy
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]
Overview
Medical therapy is generally preferred over surgical ones due to their fewer number of complications and diminishing side effects over time.
Medical Therapy
Epilepsy
- 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]
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.[2]
Angiomyolipoma
- 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]
Subependymal Giant Cell Astrocytoma
- 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.
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.[2]
Skin Lesions
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 Inhibitors side effect:
mTOR inhibition therapy may cause stomatitis, diabetes, hyperlipidemia, wound-healing complications, infertility and delayed sexual maturation.[2]