OBJECTIVES: Tuberous sclerosis complex (TSC), a rare genetic disorder affects over 50,000 people in the United States (US). The disease burden of facial angiofibroma (FA), the most predominant cutaneous manifestation of TSC, is substantial. We aimed to document healthcare resource utilization (HCRU) and costs related with management of TSC and in a subset of TSC patients with FA.

METHODS: This cross-sectional, retrospective study included prevalent and incident TSC with ≥1 inpatient or ≥2 outpatient claims for TSC (International Classification of Diseases, 10th Revision, Clinical Modification diagnosis code: Q85.1) using the Symphony Health Solution Integrated Dataverse (IDV^®) database (November 2018–October 2021). TSC-related HCRU (inpatient hospitalizations, office and emergency department [ED] visits, outpatient services, and prescription fills) and costs were estimated based on medical claims with TSC as the primary diagnosis, stratified by TSC patients with/without FA, therapy for FA, age group, and payer types, and assessed over 1-year follow-up period.

RESULTS: In total, 4,446 patients (1,390 [31.3%]/3,056 [68.7%] with/without FA; female 52.4%) were included. Medicaid was the most common insurance type (43.3%), and most common comorbidities involved kidney (16.4%) and heart (8.4%). The TSC cohort with FA vs. overall TSC patients had 982/3,352 inpatient hospitalizations with a per visit hospitalization charge of $20,695/$29,254; 1042/3,538 ED visits with a per visit charge of $2,280/$3529; 9,113/26,232 office visits with a per visit charge of $475/$410; 17,393/50,235 non-ED/office outpatient services with a per service charge of $3,552/$3,746; and 56,664/152,013 pharmacy claims with a per claim charge of $982/$3,352. TSC-related HCRU and cost outcomes across different stratifications were aligned with overall findings for both patient cohorts.

CONCLUSIONS: TSC patients and those with FA face substantial disease, HCRU and cost burden, with total costs being driven by outpatient pharmacy claims and other outpatient services, highlighting their treatment needs in the US healthcare setting.