Tuberous Sclerosis Complex in an Australian Adult Tertiary Centre: Surveillance Adherence and Outpatient Burden in a Fragmented Model of Care
Steven Thien Nguyen, Rory Wallace, Matthew SypekABSTRACT
Aim
The Australian National Strategic Action Plan for Rare Diseases (2020) calls for integrated care, yet the current state for many rare conditions is poorly described. Tuberous Sclerosis Complex (TSC) is a rare genetic disease caused by a loss‐of‐function mutation in either TSC1 or TSC2, resulting in hamartomas across multiple organs. TSC affects up to 1:5000 live births and requires lifelong multidisciplinary surveillance. The aim of this study was to evaluate TSC care in a single, adult, tertiary service and assess adherence to international best‐practice guidelines.
Methods
We conducted a retrospective audit of adults with TSC cared for between 2021 and 2024. Demographics, genetic testing, clinical manifestations, treatments, and follow up were extracted from electronic medical records. Surveillance was benchmarked against the 2021 Updated International TSC Diagnostic Criteria and Surveillance and Management Guidelines.
Results
57 patients were included in this study (32 (56%) male). 37.3% had genetic testing documented. Phenotype frequencies were broadly consistent with the published literature. The majority of patients had adequate neurologic and renal surveillance, whereas screening for other comorbidities was infrequent or absent. There were a high number of outpatient clinic attendances, with a mean of 4.6 (IQR: 2.5–5.5) visits per year.
Conclusion
Adults with TSC at our centre experience a high care burden yet incomplete surveillance against international recommendations, reflecting fragmented care in the absence of consolidated adult multidisciplinary clinics. Establishing integrated, adult TSC services could improve adherence to surveillance, streamline care, and reduce avoidable mobility. These data provide a baseline for service design and future quality improvement.