Individuals & Families

Treatment Guidelines

The following table provides guidelines to help you and your loved one manage the treatment of TSC.  Additional information for your physician is available here.

PROCEDURE FOR NEWLY DIAGNOSED
OR SUSPECTED TSC
FOR INDIVIDUALS ALREADY
DIAGNOSED WITH TSC
BRAIN
Brain MRI with and without gadolinium Yes Every 1-3 years up to age 25; periodically as adults if SEGAs present in childhood
Electroencephalogram (EEG) Yes; if abnormal, follow-up with 24-hour video EEG Routine EEG determined by clinical need; video EEG when seizure occurrence is unclear or when unexplained behavioral or neurological changes occur
TAND checklist Yes At least annually at each clinical visit
Comprehensive evaluation for TAND If warranted by TAND checklist analysis At key development time points (years):   0-3, 3-6, 6-9, 12-16, 28-35, and as needed thereafter
Counsel parents of infants Educate parents to recognize infantile spasms* Not applicable
SKIN, EYES, TEETH
Complete eye exam with dilated fundoscopy Yes Annually if lesions or symptoms identified at baseline
Detailed skin exam Yes Annually
Detailed dental exam Yes Every 6 months
Panoramic radiographs of teeth If age 7 or older At age 7 if not done previously
HEART
Fetal echocardiography only if rhabdomyomas identified by prenatal ultrasound Not applicable
Echocardiogram Yes in children, especially if younger than 3 years Every 1-3 years if rhabdomyoma present in asymptomatic children; more frequently in symptomatic individuals
Electrocardiogram (ECG/EKG) Yes Every 3-5 years; more frequently if symptomatic
KIDNEYS
Blood pressure Yes Annually
Abdominal MRI Yes Every 1-3 years
Glomerular filtration rate (GFR) test Yes Annually
LUNGS
Clinical screening for LAM symptoms** Yes At each clinic visit
Pulmonary function test and 6-minute walk test In all females age 18 or older; in adult males only if symptomatic Annually if lung cysts detected by high resolution computed tomography (HCRT)
High resolution computed tomography (HCRT) of chest Yes Every 2-3 years if lung cysts detected on HRCT; otherwise every 5-10 years
Counsel on risks of smoking and estrogen use In adolescent and adult females At each clinic visit for individuals at risk of LAM
GENETICS
Genetics consultation Obtain 3-generation family history Offer genetic testing  of TSC1/2 and counseling if not done previously in individuals of reproductive age
*Treat infantile spasms with vigabatrin as first-line therapy.  Adrenocorticotropic hormone (ACTH) can be used as a second-line therapy if vigabatrin treatment is unsuccessful.

**Evaluate for LAM when symptoms such as unexplained chronic cough, chest pain, or breathing difficulties are present including exertional dyspnea and shortness of breath.