Tuberous Sclerosis Complex Supportive Care Protocol
Primary Stack
Core supplements with strongest evidenceFDA-approved (Epidiolex) for seizures in TSC; anticonvulsant mechanism
Supporting Studies (1)
Supporting Stack
Additional supplements for enhanced resultsSupports bone health; anticonvulsant medications deplete vitamin D
Supporting Studies (1)
Neuroprotective; supports brain health; may have mild anticonvulsant effects
Supporting Studies (1)
Anticonvulsants may deplete folate; supports neurological health
Supporting Studies (1)
Supports bone health; anticonvulsants increase fracture risk
Supporting Studies (1)
How This Protocol Works
Simple Explanation
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes non-cancerous tumors to grow in many parts of the body, including the brain, kidneys, heart, lungs, eyes, and skin.
GENETIC CAUSE:
COMMON FEATURES:
CRITICAL: TSC requires lifelong multidisciplinary medical management. This protocol is SUPPORTIVE ONLY.
MEDICAL TREATMENTS:
MONITORING SCHEDULE:
* CBD (Epidiolex) is FDA-approved for TSC-related seizures.
* Nutritional support is important due to anticonvulsant medications.
* Bone health needs attention due to seizure medications.
Expected timeline: TSC is lifelong. Treatment aims to control seizures, manage tumor growth, and optimize quality of life.
Clinical Perspective
Tuberous Sclerosis Complex: Autosomal dominant; TSC1 (hamartin) or TSC2 (tuberin) mutations causing mTOR pathway hyperactivation. Incidence ~1:6,000. Variable expressivity. Major features: cortical tubers, subependymal nodules, SEGAs, cardiac rhabdomyomas, renal AMLs, facial angiofibromas, LAM.
CRITICAL: Multidisciplinary management essential (neurology, nephrology, pulmonology, dermatology, genetics). mTOR inhibitors (everolimus, sirolimus) are disease-modifying for SEGAs, AMLs, LAM. CBD (Epidiolex) FDA-approved for TSC seizures. Vigabatrin preferred for infantile spasms. Surgical options for refractory seizures. Surveillance per TSC guidelines. Supplements address nutritional needs from chronic anticonvulsant therapy.
* CBD/Epidiolex (A-grade): Anticonvulsant. GWPCARE6 trial: (PMID: 31334869). Prescription required.
* Vitamin D (C-grade): Bone health. Review: (PMID: 28750270). 1000-2000 IU daily.
* Omega-3 (C-grade): Neuroprotection. Review: (PMID: 27840029). 1-2g EPA+DHA daily.
* Folate (C-grade): AED-related depletion. Systematic review: (PMID: 27450775). 400-800mcg daily.
* Calcium (C-grade): Bone health. Review: (PMID: 28332116). 500-1000mg daily.
Assessment targets: Seizure frequency, tumor size (MRI/imaging), renal function, developmental milestones, bone density.
Protocol notes: Seizures: vigabatrin for infantile spasms; may use multiple AEDs; CBD adjunctive for refractory. mTOR inhibitors: everolimus for SEGA, AML >3cm, LAM; monitor levels, lipids, CBC. Surgery: epilepsy surgery if focal onset identified; embolization/surgery for symptomatic AMLs. Surveillance: 2019 International TSC Consensus Guidelines. TAND (TSC-Associated Neuropsychiatric Disorders): screen regularly; autism spectrum common. Genetic counseling: 50% inheritance risk; prenatal diagnosis available. LAM: affects ~30% of adult women; mTOR inhibitors first-line. Cardiac rhabdomyomas: usually regress; may need intervention if causing arrhythmias.