Tuberous sclerosis epidemiology and demographics: Difference between revisions

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==Epidemiology and Demographics==
==Epidemiology and Demographics==
===Epidemiology===
===Epidemiology===
* The [[live birth|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.<ref name="TSC-prevalence">{{cite journal
* Tuberous sclerosis complex affects about 1 in 6,000 people, occurring in all races and ethnic groups, and in both genders.
| author = O'Callaghan FJK, Shiell AW, Osborne JP, Martyn CN
* Prior to the invention of CT scanning to identify the nodules and tubers in the brain, the prevalence was thought to be much lower and the disease associated with those people diagnosed clinically with learning disability, seizures, and facial angiofibroma.  
| title = Prevalence of tuberous sclerosis estimated by capture-recapture analysis
* Whilst still regarded as a rare disease, TSC is common when compared to many other genetic diseases, with at least 1 million individuals worldwide.<ref>Curatolo, Paolo, ed. ''Tuberous sclerosis complex: from basic science to clinical phenotypes''. Cambridge University Press, 2003.</ref><ref>NIH - Tuberous Sclerosis - https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#genes - accessed at 06/10/2020</ref>
| journal = Lancet
| volume = 351
| issue = 9114
| year = 1998
| pages = 1490
| doi = 10.1016/S0140-6736(05)78872-3}}</ref>
 
* These estimates are significantly higher than those produced by older studies, when tuberous sclerosis was regarded as an extremely rare disease.  Invention of [[CT scan|CT]] and [[Medical ultrasonography|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 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.

Revision as of 15:38, 16 June 2020

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

Epidemiology and Demographics

Epidemiology

  • Tuberous sclerosis complex affects about 1 in 6,000 people, occurring in all races and ethnic groups, and in both genders.
  • Prior to the invention of CT scanning to identify the nodules and tubers in the brain, the prevalence was thought to be much lower and the disease associated with those people diagnosed clinically with learning disability, seizures, and facial angiofibroma.
  • Whilst still regarded as a rare disease, TSC is common when compared to many other genetic diseases, with at least 1 million individuals worldwide.[1][2]
  • 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. Curatolo, Paolo, ed. Tuberous sclerosis complex: from basic science to clinical phenotypes. Cambridge University Press, 2003.
  2. NIH - Tuberous Sclerosis - https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#genes - accessed at 06/10/2020