Original Article| Volume 52, ISSUE 4, P435-441, April 2015

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



      Tuberous sclerosis complex (TSC) is a multiorgan, autosomal-dominant genetic disorder with incomplete penetrance.


      This analysis of a web-based survey focuses on the clinical presentation, management, and associated burden of patients with TSC in the United States.


      A 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.


      Results demonstrate that TSC is associated with significant clinical burden, resource utilization, and decreased mental health well-being.


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