Which TSC manifestations warrant mTOR inhibitor therapy?

SEGA ≥3 cm growing, AML ≥3 cm (to prevent hemorrhage), LAM with declining FEV1, and refractory seizures (adjunctive) are current indications for everolimus.

What angiomyolipoma size predicts hemorrhage risk?

AML >3 cm, especially those with aneurysm visible on imaging or rapid growth, have significant hemorrhage risk; prophylactic embolization or mTOR inhibitors reduce rupture risk.

What surveillance is required for SEGA?

Annual brain MRI until age 25 (or 3 years stability); after age 25 with stable SEGA, every 1-3 years; SEGA growth +50% volume or >1 cm growth indicates treatment.

What cardiac surveillance is needed in TSC?

Cardiac rhabdomyomas typically regress in infancy; echocardiogram in neonates and infants; pre-excitation syndromes (WPW) require ECG monitoring; rhabdomyomas rarely cause hemodynamic compromise after infancy.

What skin lesions are diagnostic of TSC?

Hypomelanotic macules (ash-leaf spots, ≥3), facial angiofibromas, ungual fibromas (definitive), fibrous cephalic plaques, and shagreen patches are among the major criteria for diagnosis.

Tuberous Sclerosis Complex Disease Burden Assessment

Assesses tuberous sclerosis complex disease burden across CNS (tubers, SEGA, SEH), pulmonary (LAM), renal (AML, cysts), cardiac (rhabdomyomas), and dermatological manifestations to guide everolimus/sirolimus therapy.

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Frequently Asked Questions

Which TSC manifestations warrant mTOR inhibitor therapy?

What angiomyolipoma size predicts hemorrhage risk?

What surveillance is required for SEGA?

What cardiac surveillance is needed in TSC?

What skin lesions are diagnostic of TSC?