Epidemiological insights and healthcare challenges of tuberous sclerosis complex in Shizuoka Prefecture: a retrospective cohort study

The 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.