PSU33 Characteristics and Burden of Tuberous Sclerosis Complex: Results of a Patient and Caregiver Survey in the United States

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumor growth in multiple organs. TSC's subsequent and varied impacts on patients are typically treated by many different types of procedures. This study aimed to assess the principal clinical manifestations imposed by the disease and consequent major types of health care resource utilization experienced among TSC patients in the United States (US). An Institutional Review Board-approved Internet-based survey of US TSC patients and caregivers solicited information on prevalence of manifestations, disease management, and impact on patients. Descriptive statistics were calculated. Of the 380 initial respondents, 53% were patients and 47% were caregivers. Surveys provided data on 380 patients, of whom 59% were female and the mean age was 30.4 years (SD: 17.3; median: 32.5). The majority of patients reported experiencing skin lesions (53%) while seizures, cognitive concerns, cerebral tumors, angiomyolipomas (AML), and subependymal giant cell astrocytomas (SEGA) were reported by 46%, 36%, 26%, 23%, and 21%, respectively. Ninety patients (24%) reported only one manifestation of TSC, while 18%, 14%, and 38% reported 2, 3, or 4 or more. Over half of patients (52%) had some type of TSC-related surgery including but not limited to brain surgery (33%), embolization (12%), nephrectomy (7%), kidney transplant (6%), and laser surgery (12%). Patients with SEGAs reported the highest level of brain surgery (55%). Among patients with AMLs, embolization for kidney lesions (28%), nephrectomy (12%) and kidney transplant (8%) were reported. In this analysis of initial respondents, TSC presents significant, and varied, epidemiological and clinical burden in the US. Patients with SEGA and AMLs seemed to experience the highest rates of invasive procedures among all patients with TSC.