Tuberous sclerosis epidemiology and demographics: Difference between revisions

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==Overview==


==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 16 in 100,000 individuals.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#genes|title=NIH - Tuberous Sclerosis|last=|first=|date=07/20/2020|website=NIH|archive-url=|archive-date=|dead-url=|access-date=}}</ref>
| author = O'Callaghan FJK, Shiell AW, Osborne JP, Martyn CN
* The disease was underdiagnosed before the invention of imaging methods like [[CT scans]] and [[ultrasound]].
| title = Prevalence of tuberous sclerosis estimated by capture-recapture analysis
* TSC is considered a rare disease, but it is comparably common in comparison to other genetic diseases, affecting more than 1 million patients worldwide.<ref>Curatolo, Paolo, ed. ''Tuberous sclerosis complex: from basic science to clinical phenotypes''. Cambridge University Press, 2003.</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. 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 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.<ref name="TSC-diagnosis"/>
* 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.
* 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===
===Demographics===
Tuberous sclerosis occurs in all races and ethnic groups, and in both genders.
 
* Tuberous sclerosis occurs in all races and [[Ethnic group|ethnic]] groups, and in both [[genders]].


==References==
==References==

Latest revision as of 23:08, 14 October 2021

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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]

Overview

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.