ArticleOrphanet journal of rare diseases2025
Epidemiological insights and healthcare challenges of tuberous sclerosis complex in Shizuoka Prefecture: a retrospective cohort study.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Tuberous sclerosis complex.Nature reviews. Disease primers · 2026Review
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Authors and funding
6 authors.
Funding
Abstract
backgroundTuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors in multiple organs, leading to significant morbidity. Despite its recognition as a rare disease in Japan, comprehensive regional epidemiological data are lacking, hindering effective healthcare resource allocation and the development of targeted therapies. This study aimed to determine the prevalence and epidemiological characteristics of TSC in Shizuoka Prefecture and assess the associated healthcare burden.
methodsWe conducted a retrospective cohort study using data from the Shizuoka Kokuho Database, covering approximately 2.4 million residents over an 8.5-year period (April 2012-September 2020). TSC cases were identified using the International Classification of Diseases, 10th Revision (ICD-10) code Q85.1. Adjusted prevalence rates were calculated, and analyses were performed on patient demographics, healthcare utilization, comorbidities, and treatment patterns. Comparisons with the general population were made to assess differences in neurological and renal complications.
resultsA total of 125 patients diagnosed with TSC were identified, resulting in an adjusted prevalence rate of 10.2 per 100,000. Diagnosis rates increased after 2012, likely due to revised diagnostic criteria and the introduction of mammalian target of rapamycin (mTOR) inhibitors. Patients with TSC exhibited substantial healthcare utilization and significantly higher rates of neurological and renal complications compared to the general population. Disease prevalence was notably higher among young males and varied across different age groups.
conclusionsThe higher prevalence of TSC observed in Shizuoka Prefecture suggests potential underestimation in other regions. The findings underscore the need for enhanced diagnostic strategies, including widespread genetic testing and updated treatment protocols, to effectively manage the diverse manifestations of TSC. Continuous epidemiological monitoring and adaptive healthcare policies are essential to improve timely diagnosis and the overall quality of life for patients with TSC. This study supports the necessity of patient-centered approaches in managing chronic rare diseases.
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