Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study.
OBJECTIVE
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.


CONCLUSIONS
The low prevalence of TSC in Taiwan might result from differences in penetrance, family planning, ethnic groups, and disease-modifying genes.
Hong
Chien-Hui
CH
Department of Dermatology, Kaohsiung Medical University Hospital and Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung Medical University College of Medicine, Kaohsiung 807, Taiwan, ROC.
Darling
Thomas N
TN
Lee
Chih-Hung
CH
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011156:Population Density; D011159:Population Surveillance; D015995:Prevalence; D013624:Taiwan / Q000453:epidemiology; D014402:Tuberous Sclerosis / Q000453:epidemiology*; D055815:Young Adult