Surveillance and Screening

Regular surveillance and screening is absolutely critical for anyone living with TSC as symptoms change over time. Regular surveillance and screening offers the best chance of early and successful intervention.

In 2021, the International Tuberous Sclerosis Complex Consensus Group reviewed and updated the TSC criteria for diagnosis, surveillance and management published in 2013. The published papers are available below.

This page provides brief summary of the consensus recommendations for monitoring individuals with TSC. The updated diagnostic criteria for TSC is available here.

You can also get a printable pdf of both the diagnostic criteria and the surveillance and management guidelines by clicking here. This can be useful information to print out for your GP.

Understanding TSC

New or Suspected Diagnosis
Diagnostic Criteria
Genetics and TSC
Signs, Symptoms and Treatments
Surveillance and Screening
Research

Surveillance and management guidelines for TSC

Brain
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ProcedureFor newly diagnosed or suspected TSCFor individuals already diagnosed with TSC
Brain MRI with and without gadoliniumYesEvery 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 EEGRoutine EEG determined by clinical need; video EEG when seizure occurrence is unclear or when unexplained behavioral or neurological changes occur
TAND checklistYesAt least annually at each clinical visit
Comprehensive evaluation for TANDIf warranted by TAND checklist analysisAt key development time points (years):   0-3, 3-6, 6-9, 12-16, 28-35, and as needed thereafter
Counsel parents of infantsEducate parents to recognize infantile spasms*Not applicable
*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.  Note: Currently in Australia oral steroids are often used instead of ACTH as a second-line therapy.
Eyes, Skin, Teeth
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Dental 3
ProcedureFor newly diagnosed or suspected TSCFor individuals already diagnosed with TSC
Complete eye exam with dilated fundoscopyYesAnnually if lesions or symptoms identified at baseline
Detailed skin examYesAnnually
Detailed dental examYesEvery 6 months
Panoramic radiographs of teethIf age 7 or olderAt age 7 if not done previously
Heart
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ProcedureFor newly diagnosed or suspected TSCFor individuals already diagnosed with TSC
Fetal echocardiographyOnly if rhabdomyomas identified by prenatal ultrasoundNot applicable
EchocardiogramYes in children, especially if younger than 3 yearsEvery 1-3 years if rhabdomyoma present in asymptomatic children; more frequently in symptomatic individuals
Electrocardiogram (ECG/EKG)YesEvery 3-5 years; more frequently if symptomatic
Kidneys
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ProcedureFor newly diagnosed or suspected TSCFor individuals already diagnosed with TSC
Blood pressureYesAnnually
Abdominal MRI**YesEvery 1-3 years
Glomerular filtration rate (GFR) testYesAnnually
**Note: Historically in Australia an ultrasound/imaging of the kidneys was more commonly used in place of an MRI of the abdomen. However, thanks to work by TSA and others, abdominal MRIs are being funded under the medical benefits scheme (MBS) from 1 July 2024.
Lungs
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ProcedureFor newly diagnosed or suspected TSCFor individuals already diagnosed with TSC
Clinical screening for lymphangioleiomyomatosis (LAM) symptoms***YesAt each clinic visit
Pulmonary function test and 6-minute walk testIn all females age 18 or older; in adult males only if symptomaticAnnually if lung cysts detected by high resolution computed tomography (HCRT)
High resolution computed tomography (HCRT) of chestIn females 18 years and older; in adult males only if symptomaticEvery 2-3 years if lung cysts detected on HRCT; otherwise every 5-10 years
Counsel on risks of smoking and estrogen useIn adolescent and adult femalesAt each clinic visit for individuals at risk of LAM
***Evaluate for LAM when symptoms such as unexplained chronic cough, chest pain, or breathing difficulties are present including exertional dyspnea and shortness of breath.
Genetics
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ProcedureFor newly diagnosed or suspected TSCFor individuals already diagnosed with TSC
Genetics consultationObtain 3-generation family historyOffer genetic testing  of TSC1/2 and counselling if not done previously in individuals of reproductive age