Abstracts

Rationale: Patients with tuberous sclerosis complex (TSC), a genetic disorder characterized by benign tumor growth in multiple organs, may experience neurological disease progression stemming from severe and early-onset epilepsy. Many patients with TSC and epilepsy begin having seizures in infancy, continuing with increased frequency and severity throughout childhood. Epilepsy is a significant source of morbidity and mortality among TSC patients. This analysis aimed to assess the prevalence, presentation, and associated impact of seizures in patients with TSC in the United States (US). Methods: An Institutional Review Board-approved Web-based survey of US TSC patients and their caregivers obtained information on prevalence of different TSC manifestations, their treatment and management, and epidemiological, clinical, economic and health-related quality of life (HRQoL) burden on patients and caregivers. This analysis focused on the prevalence, presentation, outcomes, and management of seizures. Results: The online survey is on-going. Of 380 TSC patients whose data have been collected to date, 59% were female and mean age was 30.4 years (median: 32.5, range: 0-70). Two hundred respondents (53%) were patients with TSC and 180 (47%) were caregivers of patients with TSC. Of the 380 TSC patients 176 (46%) had been diagnosed with seizures. Patients with seizures also experienced skin lesions (78%), cognitive concerns (66%), kidney complications (51%), and SEGAs (30%). Seventy-seven percent of seizure patients reported taking anti-epileptic drugs (AED) in the past 6 months, 27%, 31%, 13%, and 6% of seizure patients have taken 1, 2, 3, or 4 or more in the past 6 months. Employed patients with seizures (n=28) report missing approximately 18% of their working week and experiencing 40% impairment while working. Employed caregivers of patients with seizures (n=69) report missing approximately 9% of their working week and experiencing 30% impairment while working. Conclusions: Initial survey data have demonstrated that seizures due to TSC are associated with significant epidemiological, economic, and clinical burden. The complete survey data will provide further insights on the clinical profile and economic and HRQoL impact of seizures due to TSC.