Quantifying survival in patients with Proteus syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Julie C Sapp, Lian Hu, Jean Zhao, Ashlyn Gruber, Brian Schwartz, Dora Ferrari, Leslie G Biesecker Md

ABSTRACT

PurposeProteus 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.MethodsTo 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.ResultsThe 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.ConclusionThese 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. More... »

PAGES

1376

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2017.65

DOI

http://dx.doi.org/10.1038/gim.2017.65

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1090354855

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28661492


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