Prevalence of tuberous sclerosis complex in taiwan: A national population-based study

Chih Hung Lee*, Chien Hui Hong, Thomas N. Darling

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

27 Scopus citations

Abstract

Background/Aims: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes. Previous studies have estimated the prevalence of TSC to be 1:8,000 to 1:30,000. The numbers of patients and the populations accessed in these studies are relatively small. The aim of this study is to evaluate the prevalence of TSC in Taiwan with a population of 23 million people. Methods: 95% of Taiwanese are enrolled in a single national health insurance database. This study uses this database to estimate the prevalence of TSC in a large Chinese population. Results: The prevalence of TSC in Taiwan is estimated at 1:95,136. There is no prevalence difference in rural or urban areas. The ages of the patients ranges from 3 months to 75 years, with a mean of 14 ± 11 years. Prevalence by age is 1:14,608, 1:18,851, and 1:24,617 for ages <6, 12, and 18 years, respectively. Only 15% of patients disclose a family history of TSC. The majority of cases (71.2%) are diagnosed in an outpatient visit by a pediatrician. Conclusion: The low prevalence of TSC in Taiwan might result from differences in penetrance, family planning, ethnic groups, and disease-modifying genes.

Original languageEnglish
Pages (from-to)335-341
Number of pages7
JournalNeuroepidemiology
Volume33
Issue number4
DOIs
StatePublished - 12 2009
Externally publishedYes

Keywords

  • Angiofibroma, facial
  • Hamartoma, benign
  • Sclerosis complex, tuberous

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