Dr Steven Thien Nguyen1,2, Dr Rory Wallace1,3, Dr Matthew Sypek1,3
1Department of Nephrology, The Royal Melbourne Hospital, Parkville, Australia, 2Department of General Medicine, The Royal Melbourne Hospital, Parkville, Australia, 3Department of Medicine (RMH), The University of Melbourne, Parkville, Australia
Biography:
Steven is a first year General and Acute Care Medicine Advanced Trainee. He hopes to dual train in Nephrology and General Medicine. Steven has been fostering his interest in rare genetic kidney disease through this project and hopes to improve access to multidisciplinary care for affected patients.
Aims:
To evaluate Tuberous Sclerosis Complex (TSC) care in a single, adult, tertiary healthcare service and assess compliance with international best practice guidelines.
Background:
TSC is a rare genetic disease caused by loss-of-function mutations in either TSC1 or TSC2 resulting in hamartomatous tumour formation in multiple organ systems. TSC affects up to 1:5,000 live births and requires significant healthcare engagement and lifelong surveillance. International guidelines outline recommended screening and surveillance; however, little is known about guideline adherence in this population.
Methods:
This was a retrospective audit of patients with a diagnosis of TSC, at a tertiary health service between 2021 and 2024. Data pertaining to demographics, genetic testing, clinical manifestations, treatment and follow-up care were collected by review of electronic medical records. Surveillance rates were compared with the 2021 Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Results:
57 patients were included, 32 males. Less than 40% of patients had genetic testing. Rates of most disease phenotypes were consistent with existing literature. Most patients had adequate neurologic and renal surveillance. Surveillance and screening for other comorbidities was poor. There were a high number of outpatient clinic attendances, with a mean of 4.6 (IQR: 2.5 – 5.5) visits per year.
Conclusions:
This cohort has a high burden of outpatient care with encounters across several subspecialties. There are significant deficiencies with surveillance in accordance with the international guidelines. This may represent fragmented care across multiple public health services in the absence of a consolidated multidisciplinary service. This study highlights shortcomings in the care of patients with TSC that may be addressed by establishing adult multidisciplinary TSC clinics in line with international standards.