Diagnostic flow analysis of tuberous sclerosis complex in Japan: a retrospective claims database study.

ABSTRACT:

Background

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organs. However, precise diagnosis is challenging owing to the lack of truly pathognomonic symptoms. This retrospective observational study aimed to explore the real-world diagnostic flow of Japanese patients with TSC by examining time to diagnosis (TTD) from the onset of each TSC-related manifestation to TSC diagnosis and the role of TSC clinic in timely diagnosis, using data from a health insurance database.

Methods

Analyses were performed using data derived from the JMDC Claims Database between January 2005 and December 2020. Patients with at least 1 confirmed diagnosis of TSC were stratified into 2 cohorts: Cohort 1 included cases diagnosed after 2 years of age

SUBMITTER: Okanishi T 

PROVIDER: S-EPMC11610214 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature