Catastrophic Events Related to Tuberous Sclerosis Complex (TSC) Are Unlikely In a Heterogeneous Adult Cohort of TSC Patients (2164)

Objective: 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. Background: TSC is a multi-system neurological disorder characterized by epilepsy, cognitive dysfunction, and benign tumors of the eye, brain, heart, lung, and kidneys. TSC varies greatly in its severity with some experiencing heavy disease burden, while others are functionally independent. Management requires adherence to surveillance guidelines. Design/Methods: 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. Results: 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% Conclusions: 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. Disclosure: Miss Neal has nothing to disclose. Sarah McCain has nothing to disclose. The institution of Dr. Boggs has received research support from Liva Nova. Dr. Boggs has a non-compensated relationship as a Chairman PAB with Epilepsy Alliance North Carolina that is relevant to AAN interests or activities. Theodore B Stem has nothing to disclose. Matthew C Miles has nothing to disclose. Dr. Strowd has received personal compensation for serving as an employee of Kaplan. Dr. Strowd has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Monteris Medical, Inc. Dr. Strowd has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novocure. Dr. Strowd has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for American Academy of Neurology. The institution of Dr. Strowd has received research support from Southeastern Brain Tumor Foundation. The institution of Dr. Strowd has received research support from Jazz Pharmaceuticals. The institution of Dr. Strowd has received research support from National Institutes of Health. The institution of Dr. Strowd has received research support from Alpha Omega Alpha.