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Mortality in Tuberous sclerosis Complex: Current understandings.

Rowan Pentz1, Lauren Sham2, Maria Zak2

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|August 15, 2025
PubMed
Summary
This summary is machine-generated.

Mortality is elevated in Tuberous Sclerosis Complex (TSC), a genetic disorder. Central nervous system and renal diseases are the leading causes of death in TSC patients.

Keywords:
AngiomyolipomasLymphangioleiomyomatosisMortalitySEGASUDEPTANDTuberous sclerosis complex

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Area of Science:

  • Genetics and Medicine
  • Neuroscience
  • Oncology

Background:

  • Tuberous Sclerosis Complex (TSC) is a genetic disorder caused by mutations in TSC1 and TSC2 tumor suppressor genes.
  • TSC leads to hamartoma formation, posing significant health risks and elevated mortality.
  • Recent research has focused on identifying specific causes of mortality in TSC patients.

Purpose of the Study:

  • To critically review existing literature on mortality causes in Tuberous Sclerosis Complex.
  • To determine the leading causes of death and life expectancy in individuals with TSC.

Main Methods:

  • A comprehensive literature review was conducted using PubMed and Google Scholar.
  • Search terms included "TSC", "Tuberous Sclerosis Complex", "mortality", "death", and "life expectancy".
  • Data from 13 studies encompassing 6735 TSC individuals and 411 deaths were analyzed.

Main Results:

  • Crude mortality rates in TSC ranged from 1.4 to 13.8 per 100 individuals.
  • Standardized Mortality Ratios indicated a 3.0 to 4.9 times higher risk of death in TSC patients compared to controls.
  • Mean life expectancy for TSC patients was 66.2 years, significantly lower than the general population's 81.8 years.
  • Central nervous system and renal diseases were the most frequent causes of mortality (85% of studies).
  • Lymphangioleiomyomatosis and cardiac rhabdomyomas were significant causes of mortality in adult women and neonates, respectively.
  • Mortality associated with TSC-related neuropsychiatric disorders may be underestimated.

Conclusions:

  • Mortality in Tuberous Sclerosis Complex is significantly elevated compared to the general population.
  • Central nervous system and renal diseases are the primary drivers of mortality in TSC.
  • Further research, including cohort studies, is needed to fully characterize mortality risks, especially with emerging disease-modifying therapies.