Tuberous Sclerosis: Treatment

00:00 Cardiovascular manifestations also need to be evaluated.

00:04 We look for rhabdomyomas in the heart in young children.

00:08 Many of those children grow out of that tumor in early infancy, or early childhood, and no further imaging is required.

00:15 EKGs are performed in young adolescents and adults to look for cardiac arrhythmias and blood pressure monitoring is key annually.

00:22 We watch for that lymphangioleiomyomatosis or LAM, that finding we can see in the lungs, and that's monitored in older adults, or adults who have concerning pulmonary findings.

00:35 Renal monitoring and renal assessment is also very important, and can be done with a variety of imaging about every one to three years.

00:42 We look at the skin with a dermatologic exam and the eyes with an ophthalmologic exam, there is a multidisciplinary team that helps to take care of these patients.

00:51 Not something I need you to know all the details about, but I want you to remember the types of things that we look out for in these patients.

00:59 What treatments do we have for tuberous sclerosis? Well, there are a few things that we need to treat.

01:05 We need to treat the SEGAs because they could cause obstructive hydrocephalus.

01:09 The AMLs, those renal tumors, angiomyolipomas can bleed in the kidneys, and we may need to treat those.

01:16 The LAM finding that pulmonary finding that can contribute to difficulty with breathing may need treatment.

01:22 And seizures, we also need to treat.

01:24 We manage those symptomatically in a lot of patients, but one medicine I want you to know about is called Everolimus.

01:31 This is an mTOR inhibitor.

01:33 And you'll remember that loss of the TSC1 and TSC2 gene, the tubulin or hamerton proteins, results in increased cellular levels of mTOR.

01:42 mTOR makes cells grow.

01:45 An Everolimus is an mTOR inhibitor.

01:47 So if mTOR is making the cell grow and you give an Everolimus mTOR inhibitor, the tumors don't grow anymore.

01:53 And it turns out that for all of these indications, SEGAs, AMLs, LAM, and seizures, about 50% of patients will have a radiographic response or a seizure reduction as a result of that treatment.

02:07 So the agent is an mTOR inhibitor.

02:08 That's something I want you to remember with Everolimus.

02:11 It is well tolerated, though there's some things we may need to think about, and about 50% of patients respond.

02:17 And you can see here in the MRI image on the right, a patient who began treatment at the top for the SEGA, this Subependymal giant-cell astrocytoma, and was treated over the course of about a year and a half and we see significant reduction in the size, and less concern for obstructive hydrocephalus in that patient.