Disease Burden and Associated Factors in Chinese Patients with Tuberous Sclerosis Complex: Results of a Patient and Caregiver Survey

Fangping Wang,1,* Luyang Zhang,2,* Jianxiang Liao,1 Jinzhu Liu,3 Bixia Yuan,3 Jinghua Ye1 1Department of Neurology, Shenzhen Children’s Hospital, Shenzhen, Guangdong Province, People’s Republic of China; 2Department of Haematology and Oncology, Shenzhen Children’s Hospital, Shenzhen, Guangdong Province, People’s Republic of China; 3TSC China Alliance, Beijing, People’s Republic of China*These authors contributed equally to this workCorrespondence: Jinghua Ye, Department of Neurology, Shenzhen Children’s Hospital, 7019 Yitian Road, Shenzhen, Guangdong Province, People’s Republic of China, Tel +86-755-83008106, Email [email protected] Bixia Yuan, TSC China Alliance, Room 620, Building 2, Chengnan Avenue, Majia Fort West Road, Fengtai District, Beijing, People’s Republic of China, Email [email protected]: Tuberous Sclerosis Complex (TSC) is a rare autosomal dominant genetic disorder primarily characterized by neurological symptoms. This study aimed to evaluate the current disease burden in Chinese patients with TSC and to identify the potential influencing factors.Methods: A cross-sectional study design was employed using an online questionnaire survey. The questionnaire covered demographics, diagnosis and treatment status, medication use, and disease burden. Descriptive statistics were used to summarize the data, and multivariate logistic regression analysis was performed to examine factors influencing the disease burden in pediatric and adult patients with TSC.Results: The survey involved a total of 840 patients or their caregivers, comprising 691 pediatric and 149 adult patients, with an average age at diagnosis of 1.77 years for pediatric patients and 15.28 years for adult patients. The most prevalent clinical manifestations were seizures (75.1% in pediatric, 43.6% in adult), brain calcification spots/nodules (87.8% pediatric, 82.5% adult), and hypomelanotic macules (89.5% pediatric, 72.4% adult). Intellectual disability (ID) was reported in 29.6% of pediatric patients and 19.4% of adult patients. Catastrophic health expenditure (CHE) was reported by 29.6% of patients. Factors influencing the disease burden included ID, misdiagnosis, and use of anti-seizure medications (ASMs) and mammalian target of rapamycin (mTOR) inhibitors for pediatric patients or educational attainment, medication use (such as ASMs and mTOR inhibitors), and ID for adult patients.Conclusion: The study demonstrated that Chinese patients with TSC are confronted with a considerable disease burden. Comprehensive care strategies, tailored educational support for pediatric patients, and multidisciplinary approaches for early diagnosis are crucial for managing TSC.Keywords: tuberous sclerosis complex, disease burden, cost of illness, medical expenses, economic burden, intellectual disability, quality of life, China