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Tuberous sclerosis complex

Key sources
The following summarized guidelines for the evaluation and management of tuberous sclerosis complex are prepared by our editorial team based on guidelines from the Japanese Respiratory Society (JRS/ATS 2016), the Tuberous Sclerosis Complex International (TSCi 2013), and the European Respiratory Society (ERS 2010).


1.Screening and diagnosis

Screening of family relatives
Elicit a three-generation family history to assess for additional family members at risk of TSC.
Offer genetic testing for family counseling or when TSC diagnosis is in question but cannot be clinically confirmed.
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2.Diagnostic investigations

Evaluation of cerebral involvement: as per ITS 2013 guidelines, obtain brain MRI to assess for the presence of tubers, subependymal nodules, migrational defects, and subependymal giant cell astrocytoma in patients with suspected or newly diagnosed tuberous sclerosis.
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  • Evaluation of renal involvement

  • Evaluation of pulmonary involvement (diagnostic imaging)

  • Evaluation of cardiac involvement

  • Evaluation of pulmonary involvement (pulmonary function testing)

  • Evaluation of pulmonary involvement (blood gas analysis)

  • Evaluation of pulmonary involvement (cardiopulmonary exercise testing)

  • Evaluation of pulmonary involvement (serum VEGF-D)

  • Evaluation of pulmonary involvement (lung biopsy)

  • Evaluation of pulmonary involvement (screening for pulmonary hypertension)

  • Evaluation of pulmonary involvement (genetic testing)

  • Evaluation of cutaneous involvement

  • Evaluation of ocular involvement

  • Evaluation of dental involvement

  • Genetic testing

3.Medical management

Management of cerebral involvement
As per ITS 2013 guidelines:
Perform surgical resection for acutely symptomatic subependymal giant cell astrocytoma. Consider creating CSF diversion (shunting).
Consider performing either surgical resection or initiating medical treatment with mTOR complex inhibitors for growing but otherwise asymptomatic subependymal giant cell astrocytoma. Include a discussion of the complication risks, adverse effects, cost, length of treatment, and potential impact on TSC-associated comorbidities in the decision-making process for determining the best treatment option.

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  • Management of renal involvement

  • Management of pulmonary involvement (mTOR inhibitors)

  • Management of pulmonary involvement (hormone therapy)

  • Management of pulmonary involvement (inhaled bronchodilators)

  • Management of pulmonary involvement (doxycycline)

  • Management of pulmonary involvement (management of pneumothorax)

  • Management of pulmonary involvement (management of chylothorax)

  • Management of pulmonary involvement (lung transplantation)

  • Management of pulmonary involvement (pulmonary rehabilitation)

  • Management of pulmonary involvement (general counseling)

  • Management of pulmonary involvement (routine immunizations)

  • Management of pulmonary involvement (pregnant patients)

  • Management of cutaneous involvement

  • Management of dental involvement

4.Follow-up and surveillance

Follow-up of cerebral involvement: obtain MRI of the brain every 1-3 years in asymptomatic patients with TSC aged < 25 years to monitor for the new occurrence of subependymal giant cell astrocytoma. Obtain MRI more frequently in patients with large or growing subependymal giant cell astrocytoma or with subependymal giant cell astrocytoma causing ventricular enlargement but yet remaining asymptomatic, and educate their families regarding the potential of new symptoms. Continue obtaining imaging periodically in adult patients with asymptomatic subependymal giant cell astrocytoma diagnosed in childhood to ensure there is no growth.
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More topics in this section

  • Follow-up of renal involvement

  • Follow-up of pulmonary involvement

  • Follow-up of cardiac involvement

  • Follow-up of cutaneous involvement

  • Follow-up of ocular involvement

  • Follow-up of dental involvement