Kishida Satoshi, Nakatani Eiji, Usui Takeshi, Fujimoto Shuhei, Yamamoto Seiichiro, Miyachi Yoshiki
Graduate School of Public Health, Shizuoka Graduate University of Public Health, 4-27-2 Kitaando, Aoi-ku, Shizuoka, 420-0881, Japan.
Department of Biostatistics and Health Data Science, Graduate School of Medical Science Nagoya City University, Nagoya, Japan.
Orphanet J Rare Dis. 2025 May 23;20(1):245. doi: 10.1186/s13023-025-03799-w.
Tuberous 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.
We 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.
A 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.
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.
结节性硬化症（TSC）是一种罕见的遗传性疾病，其特征是多个器官出现良性肿瘤，导致严重的发病情况。尽管在日本它被认定为罕见病，但缺乏全面的地区流行病学数据，这阻碍了有效的医疗资源分配和靶向治疗的发展。本研究旨在确定静冈县TSC的患病率和流行病学特征，并评估相关的医疗负担。
我们使用静冈国保数据库的数据进行了一项回顾性队列研究，该数据库涵盖了8.5年期间（2012年4月至2020年9月）约240万居民。使用国际疾病分类第10版（ICD-10）编码Q85.1识别TSC病例。计算调整后的患病率，并对患者人口统计学、医疗利用情况、合并症和治疗模式进行分析。与普通人群进行比较，以评估神经和肾脏并发症的差异。
共识别出125例诊断为TSC的患者，调整后的患病率为每10万人10.2例。2012年后诊断率有所上升，可能是由于诊断标准修订以及雷帕霉素靶蛋白（mTOR）抑制剂的引入。与普通人群相比，TSC患者的医疗利用率很高，神经和肾脏并发症的发生率显著更高。该病在年轻男性中的患病率明显更高，且在不同年龄组中有所不同。
静冈县观察到的TSC较高患病率表明其他地区可能存在低估情况。研究结果强调需要加强诊断策略，包括广泛的基因检测和更新的治疗方案，以有效管理TSC的各种表现。持续的流行病学监测和适应性医疗政策对于改善TSC患者的及时诊断和总体生活质量至关重要。本研究支持在管理慢性罕见病时采用以患者为中心的方法的必要性。
