To (1) characterize clinical manifestations in an adult TSC cohort, (2) examine impact of distance from the clinic and adherence to surveillance, and (3) determine the prevalence of TSC-related catastrophic events including renal hemorrhage, renal cell carcinoma, sudden unexplained death in epilepsy (SUDEP), and death from any other cause.

All patients seen at the Wake Forest Baptist Comprehensive Tuberous Sclerosis Clinic were retrospectively enrolled. Data was collected on demographics and TSC clinical criteria met. Descriptive statistics, t-test, and ANOVA were performed. Rural vs. urban status was determined by RUCA codes.

40 patients were enrolled; mean age 35.8 years +/- 12.6; 40% male, 77% urban. Clinical manifestations of TSC included: 88% epilepsy, 85% skin involvement, 73% renal involvement, 80% neurological involvement, 48% pulmonary and/or cardiac involvement, 18% LAM, and 13% retinal hamartomas. The majority lived >60 miles away (44%) compared to 33% within 30-60 miles and 23% <30 miles. In all years seen, nonverbal patients were more likely to adhere to surveillance guidelines (p-value<0.0001). Rural vs. urban status (p-value=0.4) and distance from clinic did not influence adherence to surveillance. Catastrophic events related to TSC were uncommon: there were two prior cases of renal hemorrhage, one case of renal cell carcinoma, and one case of death from any other cause.

In this cohort of adult TSC patients, the most common manifestations include epilepsy, dermatologic manifestations, neurological manifestations, and renal manifestations. Adherence to TS Alliance surveillance was higher for nonverbal patients, perhaps due to the influence of caretakers. Catastrophic events occurred rarely.