Quantifying survival in Patients with Proteus Syndrome

PURPOSE: Proteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the lifespan of affected patients is reduced, this has not been measured. Mortality data on rare diseases is critical for assessing treatments and other interventions. METHODS: To address this we used the clinical research records of 64 patients in a longitudinal natural history cohort at NIH to ascertain the data in an organized manner and estimate survival using a Kaplan-Meier approach. RESULTS: The median age of diagnosis was 19 months. Based on this analysis, there was 25% probability of death by 22 years of age. Ten out of 11 patients who died were younger than 22 years of age and there was only a single death after this age. CONCLUSION: These data quantify the risk of premature death in Proteus syndrome, which can be used to support interventions and trials. Although the risk of death is substantial, that only one patient death was after 22 years of age supports anecdotal evidence that the disease process moderates after the end of adolescence. Interventions to reduce mortality should be targeted to the pediatric age range.