Tuberous sclerosis epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Epidemiology and Demographics

Epidemiology

  • The live-birth prevalence is estimated to be between 10 and 16 cases per 100,000. A 1998 study estimated total population prevalence between about 7 and 12 cases per 100,000, with more than half of these cases undetected.[1]
  • These estimates are significantly higher than those produced by older studies, when tuberous sclerosis was regarded as an extremely rare disease. Invention of CT and ultrasound scanning have enabled the diagnosis of many non-symptomatic cases. Prior to this, the diagnosis of tuberous sclerosis was largely restricted to severely affected individuals with Vogt's triad of learning disability, seizures and facial angiofibroma.
  • The total population prevalence figures have steadily increased from 1:150,000 in 1956, to 1:100,000 in 1968, to 1:70,000 in 1971, to 1:34,200 in 1984, to the present figure of 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. O'Callaghan FJK, Shiell AW, Osborne JP, Martyn CN (1998). "Prevalence of tuberous sclerosis estimated by capture-recapture analysis". Lancet. 351 (9114): 1490. doi:10.1016/S0140-6736(05)78872-3.

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