Introduction: Burden of illness (BOI) in TSC and impact on quality of life (QoL) of patients and/or their caregivers were evaluated as part of the TOSCA research project.

Methods: Patients/caregivers completed a questionnaire with disease-specific questions on BOI and validated QoL questionnaires. In addition, thematic analysis of caregivers’ experiences was performed.

Results: 143 patients (55 aged ≥18 years [38 self-reported and 17 caregiver-reported]; 44 aged ≤ 10 years and 25 aged 11-17 years [caregiver-reported]; 17 aged 11-17 years [self-reported]) were enrolled from 7 European countries. Median duration of TSC was 11.2 years (range, 1.6-43.5). 80% of adults and 58% of children were managed by a TSC specialist. 25.5% of adults and 23.9% children needed extra assistance at home. 41.8% of adults and 56.8% of children felt social services provided inadequate support and information. Career/education had been adversely impacted in 50.9% of adults and 56.8% of children. Interpersonal relationships within or outside the family were adversely affected in 52.7% of adults and 46.6% of children. 41.8% of adults and 52.1% of children were in contact with a TSC association. Genetic testing was performed in 81.8% of patients, but counseling was lacking in 23.1%. Smooth transition from pediatric to adult care was reported in 41.8%. Pain/discomfort and anxiety/depression were frequently reported in both adults (41.8% and 49.1%) and children (35.2% and 46.6%), respectively.

Conclusion: TSC affects the lives of patients and families in multiple ways and different domains. Further research is needed in order to effectively and globally alleviate this burden.