Tuberous sclerosis epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]

Epidemiology and Demographics

Epidemiology

  • Tuberous sclerosis complex affects about 16 in 100,000 individuals.[1]
  • The disease was underdiagnosed before the invention of imaging methods like CT scans and ultrasound.
  • TSC is considered a rare disease, but it is comparably common in comparison to other genetic diseases, affecting more than 1 million patients worldwide.[2]
  • The total population prevalence figures have steadily increased. 1:150,000 in 1956, to 1:100,000 in 1968, to 1:70,000 in 1971, to 1:34,200 in 1984, to 1:12,500 in 1998.
  • The incidence of rhabdomyomas in the newborn may be as high as 90% and in adults as low as 20%. These tumors grow during the second half of pregnancy and regress after birth. Many will disappear entirely. Alternatively, the tumor size remains constant as the heart grows, which has much the same effect.

Demographics

  • Tuberous sclerosis occurs in all races and ethnic groups, and in both genders.

References

  1. "NIH - Tuberous Sclerosis". NIH. 07/20/2020. Check date values in: |date= (help)
  2. Curatolo, Paolo, ed. Tuberous sclerosis complex: from basic science to clinical phenotypes. Cambridge University Press, 2003.