Genetics of Tuberous Sclerosis Guidelines

Updated: Sep 02, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Guidelines

International Tuberous Sclerosis Complex Consensus Group

In 2021, the International Tuberous Sclerosis Complex Consensus Group published an update to the diagnostic criteria for tuberous sclerosis complex (TSC) and to the recommendations for surveillance and management of the condition. Guidelines pertaining to newly diagnosed or suspected TSC include the following. [59]

Genetics

Recommendations include the following:

  • A three-generation family history should be obtained to determine which additional family members are at risk of TSC
  • Genetic testing should be offered for use in family counseling or when a clinical confirmation of TSC cannot be made in suspected or questioned cases

Brain

Recommendations include the following:

  • Evaluate the patient for the presence of tubers, subependymal nodules (SENs), migrational defects, and subependymal giant cell astrocytomas (SEGAs), via magnetic resonance imaging (MRI) of the brain
  • During the patient’s infancy, parents should be taught to recognize infantile spasms and focal seizures, even in the absence of any at the time of first diagnosis
  • A baseline routine electroencephalogram should be obtained while the patient is awake and asleep; in cases of an abnormal electroencephalogram, evaluate the patient for seizure activity by following up with an 8- to 24-hour video electroencephalogram, particularly if features of any TSC-associated neuropsychiatric disorders (TAND) also exist

TAND

Recommendations include the following:

  • Comprehensive assessment for TAND should be performed “across all levels of potential TAND manifestations”
  • Educate and train the parent/caregiver with regard to TAND so that families can recognize emerging TAND manifestations (eg, autism spectrum disorder, language disorders, attention deficit hyperactivity disorder, anxiety disorders)

Kidneys

Recommendations include the following:

  • Abdominal MRI should be obtained so that the patient can be evaluated for the presence of angiomyolipomas and renal cysts
  • Accurate blood pressure should be obtained to screen for hypertension
  • Determine the glomerular filtration rate (GFR) to assess renal function

Lungs

Recommendations include the following:

  • Query all adult patients with TSC with regard to tobacco exposure, connective tissue disease manifestations, signs of chyle leak, and pulmonary manifestations of dyspnea, cough, and spontaneous pneumothorax
  • Beginning at age 18 years or older, carry out baseline chest computed tomography (CT) scanning in all females and symptomatic males
  • When, on the screening chest CT scan, there is evidence of cystic lung disease consistent with lymphangiomyomatosis, baseline pulmonary function tests and the 6-minute walk test should be performed

Skin

The recommendation is as follows:

  • A detailed clinical dermatologic inspection/exam should be performed

Teeth

The recommendation is as follows:

  • A detailed clinical dental inspection/exam should be performed

Heart

Recommendations include the following:

  • When the presence of rhabdomyomas has been determined through prenatal ultrasonography, fetal echocardiography should be considered to identify individuals who, after delivery, will have a high heart failure risk
  • In pediatric patients, particularly those younger than age 3 years, an echocardiogram should be obtained

Eyes

The recommendation is as follows:

  • A complete ophthalmologic evaluation, including dilated fundoscopy, should be performed to evaluate the patient for retinal findings (astrocytic hamartoma, achromic patch) and visual field deficits