
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Tuberous sclerosis medical therapy
Introduction
Overview
Overview
Medical therapy is generally preferred over surgical ones due to their fewer number of complications and diminishing side effects over time.
Medical Therapy
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]
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]
