Tuberous sclerosis complex (TSC) is an autosomal dominant disease with development of multiple hamartomas in brain, kidney, and skin. The death may result from massive renal bleeding or other comorbidities. We have previously reported the prevalence and incidence of TSC. However, the impacts of TSC on the mortality rate and life expectancy are unknown. From year 1997 to 2001, we followed up 471 patients of TSC in Taiwan. The result showed that 14 (9 males and 6 females) of 471 patients (3.0%) were dead during the follow up (median death age at 32.6 years). The further analysis showed that onset age (10.8 vs 30.6 years) was significantly higher in alive than in dead patients. The life expectancy of TSC patients is estimated to be 31.2, 31.1, 15.8, and 5.4 years among the age group of <1, 1-20, 21-40, and >60 years old, respectively. Based on the population data, the standardized mortality ratio (SMR) is 4.99 (2.34-7.60) folds higher in TSC patients than that in general population. The young onset age group showed a higher mortality rate than the old age onset group (14.05 vs 1.96 per 1000 person years). The occurrence of dementia (13.5% vs 3.2%) and renal diseases (14.7% vs 2.2%) are significant higher in the old than that in young age onset group. The Kaplan-Meier analysis validated that late onset to the enhanced mortality and its association of renal diseases and dementia. In summary, the life expectancy is lower in patient with TSC (31.2 years) and the standardized mortality ratio is 5-fold increased. The increased mortality in the late onset group may result from renal diseases and dementia related illnesses. The early diagnosis and the vigilance of renal involvement and dementia may render favorable disease survival in TSC.

Patients with tuberous sclerosis complex (TSC) have a life expectancy of 31.2 years and a 5-fold increased standardized mortality rate, both of which were worsen in the late disease onset group associated with renal diseases