Quantifying survival in patients with Proteus syndrome.
12/2017
Journal Article
Authors:
Sapp, J.C.;
Hu, L.;
Zhao, J.;
Gruber, A.;
Schwartz, B.;
Ferrari, D.;
Md, L.G.Biesecke
Secondary:
Genet Med
Volume:
19
Pagination:
1376-1379
Issue:
12
Journal:
Genet Med
PMID:
28661492
URL:
https://www.ncbi.nlm.nih.gov/pubmed/28661492
Keywords:
Adolescent; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Kaplan-Meier Estimate; Male; Proteus Syndrome; Young Adult
Abstract:
Purpose Proteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the life span 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 the National Institutes of Health 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 of the 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, the fact that only one patient died 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.
