When is everolimus indicated in tuberous sclerosis complex?

Everolimus is FDA-approved for: SEGA ≥1 cm with growth or symptoms, renal AML ≥3 cm, TSC-associated FOCAL-onset seizures (adjunct), and TSC-LAM. Monitoring includes MRI brain/kidney (6-monthly), pulmonary function, and VEGF-D levels for LAM activity.

What genetic testing is used in TSC?

TSC1 (hamartin) and TSC2 (tuberin) sequencing with deletion/duplication analysis identifies mutations in 85–90% of patients meeting clinical criteria. TSC2 mutations cause more severe phenotype. No mutation found in 10–15% (clinical diagnosis based on major/minor criteria).

Tuberous Sclerosis mTOR Pathway Activity Score

Assess mTOR pathway disease burden in tuberous sclerosis complex by integrating lesion types and sizes: SEGAs, cortical tubers, subependymal nodules, renal AMLs, and pulmonary LAM score.

Use the full interactive calculator below, or

Tuberous Sclerosis mTOR Pathway Activity Score

Frequently Asked Questions

When is everolimus indicated in tuberous sclerosis complex?

What genetic testing is used in TSC?