Evaluating Health-related Quality of Life Among Tuberous Sclerosis Complex Individuals Using Health Utilities Index: a Local Study and Comparison With Existing Data

Background:Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by benign tumor growth in multiple organs, which may cause significant negative impact on patients’ health-related quality of life (HRQoL). Since HRQoL studies in Asian TSC population are scarce, we aim to evaluate the HRQoL of our local TSC patients, who are mainly ethical Chinese, so as to provide a holistic view and information for better understanding of TSC patients in this part of the world. Methods:HUI-Ch is a validated Chinese multiple-choice questionnaire for scoring Health Utilities Index Mark 2 (HUI2) and Health Utilities Index Mark 3 (HUI3). It was used to assess HRQoL of TSC individuals in Hong Kong. Proxy-data on socio-demographics and common chronic health conditions for TSC patients were collected. Data analyses involved multiple imputation with two-sample t-test, Pearson correlation and multiple regression to predict variations in HRQoL in relation to different factors. Data was compared with existing data on HUI of other disease entities.Results:Of 27 patients in the study sample, mean HUI2 and HUI3 scores were 0.64 and 0.50 respectively (1 = perfect health, 0 = death). 81.5% and 77.8% of TSC patients belonged to the “severe” disability category on HUI2 and HUI3, which were higher than the proportion of Down syndrome patients (60.0% and 72.0%). Behavioral problems on HUI2 and attention deficit hyperactivity disorder (ADHD) on HUI3 were statistically significant predictors (both p<0.01) of poorer HRQoL. Patients with behavioral problems, compared to those without, had significantly lower scores in cognition (0.88 vs 0.98, p<0.01) and self-care (0.96 vs 1.00, p<0.01) on HUI2. Patients with ADHD, compared to those without, had significantly lower scores in cognition (0.71 vs 0.95, p<0.001) and speech (0.87 vs 0.95, p<0.05) on HUI3. Patients with multiple chronic health conditions (6 or above) had lower HUI2 and HUI3 scores.Conclusions:Local TSC patients have poorer HRQoL than Down syndrome and other chronic conditions. Findings from our study can serve as a baseline for evaluating management outcome in TSC patients with similar cultural backgrounds. Further HRQoL studies can be conducted in other regions to improve the assessment accuracy of these data collected.