Tuberous Sclerosis Complex: A Survey of Health Care Resource Use and Health Burden

PurposeTuberous sclerosis complex (TSC) is a multiorgan, autosomal-dominant genetic disorder with incomplete penetrance.MethodsThis analysis of a web-based survey focuses on the clinical presentation, management, and associated burden of patients with TSC in the United States.ResultsA total of 676 TSC patients or caregivers responded. Both pediatric and adult patient groups experienced skin lesions (77% and 44%), seizures (77% and 24%), and kidney complications (33% and 25%) as well as other manifestations. Patient groups averaged 22 visits to a physician, nine procedures/tests, two emergency room visits, and two hospital admissions in the past year. Standardized tests were administered for health-related quality of life and TSC patients reported significantly worse mental health scores and better physical health scores compared to a normative sample of cancer patients.ConclusionResults demonstrate that TSC is associated with significant clinical burden, resource utilization, and decreased mental health well-being.