An estimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study (1997–2010)

Hong, Chien Hui; Tu, Hung-Pin; Lin, Jainn-Jim; Lee, C.‐H.

doi:10.1111/bjd.14415

Cited by 42 publications

(35 citation statements)

References 22 publications

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“…TSC has a prevalence of 1:20,000 and an incidence of 1:6,000-10,000 live births with no differences between ethnic groups or genders (O'Callaghan, Shiell, Osborne, & Martyn, 1998;Hong, Tu, Lin, & Lee, 2016). Here, we present an update on the genetic and genomic aspects of TSC, with a focus on clinical and laboratory practice.…”

Section: Funding Informationmentioning

confidence: 99%

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

Peron

Au²,

Northrup³

2018

American J of Med Genetics Pt C

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Tuberous Sclerosis Complex (TSC) is a multisystem autosomal dominant condition caused by inactivating pathogenic variants in either the TSC1 or the TSC2 gene, leading to hyperactivation of the mTOR pathway. Here, we present an update on the genetic and genomic aspects of TSC, with a focus on clinical and laboratory practice. We briefly summarize the structure of TSC1 and TSC2 as well as their protein products, and discuss current diagnostic testing, addressing mosaicism. We consider genotype-phenotype correlations as an example of precision medicine, and discuss genetic counseling in TSC, with the aim of providing geneticists and health care practitioners involved in the care of TSC individuals with useful tools for their practice. K E Y W O R D Sgenetic counseling, genetics of TSC, genotype-phenotype correlation, tuberous sclerosis complex (TSC), TSC1, TSC2

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Section: Funding Informationmentioning

confidence: 99%

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

Peron

Au²,

Northrup³

2018

American J of Med Genetics Pt C

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“…Understanding the epidemiology and disease burden of TSC is crucial for better management of the TSC population (20). Six population-based studies regarding the prevalence and mortality of TSC in the recent 15 years can be found (Table 1) (12,(21)(22)(23)(24)(25)(26). Amongst the six studies, three studies feature the prevalence of TSC in Caucasian population, with variable prevalence rate (ranges from 1 in 7,872 to 1 in 24,956).…”

Section: Introductionmentioning

confidence: 99%

“…Whereas for Asian population, population-based prevalence studies of TSC patients can only be found in Taiwan but it varies signi cantly with time (prevalence estimated 1:2,500,000 in 1997, 1:95,136 between 2004 and 2006, and 1:63,291 in 2010) (22,23). In terms of survival, only two studies from Mayo Clinic in 1991 and Bath in 2017 addressed the mortality issue (12,27,28).…”

Section: Introductionmentioning

confidence: 99%

Prevalence, mortality and healthcare economic burden of Tuberous Sclerosis in Hong Kong: a population-based retrospective cohort study (1995-2018)

Chu

Chiang

Chan

et al. 2020

Preprint

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Background We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, mTOR inhibitor use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with documented visits to our local public hospitals in 1995-2018 were identified. The public hospitals captured most if not all local TSC patients. Demographics such as age, sex, death, genetic profiles were retrieved from the central electronic database. Data including prevalence, age distribution and survival rate were analysed. Direct cost was calculated with reference to the drug use and number of visits to various public hospital facilities. Results We identified 284 surviving TSC patients (55.3% male) in Hong Kong. The age range was from 4.5 months to 89.9 years, with a median age of 27.2 years. Paediatrics (<18 years) to adult (≥18 years) ratio was 1:2.84. The overall prevalence of TSC patients was 3.87 in 100,000 (i.e. 1 in 25,833). Genetically, TSC1:TSC2 ratio is 1:2.7. Thirty seven patients died within the study period. The age of death ranged from 7.6 years to 77.8 years, with a median age of death at 36.6 years (IQR: 24.7-51.1 years). Most patients survived till adulthood. Survival rate at 20 and 50 years follow-up was 98.6% and 79.5% respectively. Two hundred and twenty nine TSC patients (71.3%) had neurological manifestations, sixteen patients (5.0%) had chronic kidney diseases and five patients (1.6%) had pulmonary lymphangioleiomyomatosis. Forty seven (16.5%) TSC patients were prescribed with mTOR inhibitors within the study period. Healthcare facility utilization was further analysed in the 2008-2018 cohort. In particular, the mean number of specialist out-patient clinic visits per patient-year was 9.23 per patient-year, which was 4.91 times more than that of local general population. Conclusions Prevalence of local TSC patients is within the range of that reported in the literature. Local TSC patients have fair long term survival, but they require disproportionally high healthcare cost when compared with the general population, particularly in terms of outpatient (OP) visits. Although effective disease-modifying agent (i.e. mTOR inhibitor) is available, it was not widely used yet in Hong Kong despite the fact that Government approved and supported its use recently. Further research on quality of life and setting up a comprehensive patient registry are necessary for more accurate assessment of cost and benefit.

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“…The paper by Hong et al . in this issue of the BJD will be of great help in achieving this, now that we finally have accurate incidence and prevalence figures available for this disorder.…”

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confidence: 99%

“…In this issue of the BJD , Hong et al . successfully calculate the incidence of TSC as 0·153/100 000 and the prevalence as 1·58/10 000 . They have been able to do this because of the health insurance database registration system in Taiwan.…”

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confidence: 99%

How common is tuberous sclerosis complex?

Morrison

Donnelly

2016

Br J Dermatol

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An estimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study (1997–2010)

Abstract: This is the first large-scale and longitudinal incidence study of TSC. This study provides compelling evidence that TSC mutations in humans are associated with a decreased risk of peptic ulcers.

Cited by 42 publications

References 22 publications

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

Prevalence, mortality and healthcare economic burden of Tuberous Sclerosis in Hong Kong: a population-based retrospective cohort study (1995-2018)

How common is tuberous sclerosis complex?

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