DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Tuberous Sclerosis Complex (TSC)

HIGH SEVERITY

A genetic disorder causing noncancerous (benign) tumors to develop in many parts of the body, particularly the brain, skin, kidneys, heart, and lungs. Affects approximately 1 in 6,000 people. TSC1 or TSC2 gene mutations cause overactivation of mTOR pathway.

Global Affected

1.3M

Countries

30

Symptoms

Seizures
Developmental delays
Intellectual disability
Autism
Skin abnormalities (hypopigmented spots)
Facial angiofibromas
Shagreen patches
Cortical tubers (brain)
Subependymal giant cell astrocytomas
Cardiac rhabdomyomas
Renal angiomyolipomas
Lymphangioleiomyomatosis (LAM)
Behavioral problems

Treatment Options

Everolimus (Afinitor)
Sirolimus (Rapamune)
Vigabatrin (infantile spasms)
Other antiepileptic drugs
Epilepsy surgery
Skin lesion treatment
Renal procedures (embolization)
Respiratory support (LAM)
Behavioral interventions
Special education
Physical therapy
Occupational therapy

Risk Factors

1TSC1 or TSC2 gene mutation
2Family history (30%)
3Spontaneous mutation (70%)
4Autosomal dominant inheritance
5No gender predilection
6No racial predilection
7Advanced paternal age

Diagnostic Methods

  • 1Clinical criteria
  • 2TSC1/TSC2 genetic testing
  • 3MRI of brain
  • 4CT of chest/abdomen
  • 5Echocardiogram
  • 6Renal ultrasound
  • 7EEG
  • 8Skin examination
  • 9Eye examination

Prognosis

Variable. Most live normal lifespan. Complications determine outcome. Intellectual disability ranges from none to severe. Seizures controllable in many. Renal complications major concern in adulthood. LAM primarily affects women. Early intervention improves outcomes significantly.

Prevention

  • Genetic counseling
  • Prenatal testing available
  • Preimplantation genetic diagnosis
  • Family screening
  • Regular surveillance
  • Early intervention
  • Multidisciplinary care

Research Status

mTOR inhibitors (sirolimus, everolimus) revolutionized treatment. Everolimus for SEGA and renal AML. Sirolimus for LAM. Vigabatrin for infantile spasms. Epilepsy surgery. Multidisciplinary care essential. Regular surveillance protocols. Research into gene therapy ongoing.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoIndiaChinaRussiaSwedenNetherlandsNorwayFinlandDenmarkIrelandPolandCzech RepublicSlovakiaHungaryRomaniaAustraliaNew ZealandSouth AfricaEgyptNigeria

Sources

  • https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.