Evaluation of Treatment Patterns and Outcomes of Patients With PIK3CA-related Overgrowth Spectrum

Abstract

Objectives: PIK3CA-related overgrowth spectrum (PROS) is difficult to diagnose clinically and categorize in observational real-world data. This study used an innovative approach to identify and explore a population with suspected PROS. The purpose of this study was to describe characteristics, treatment patterns, and healthcare utilization among patients with evidence of PROS. Methods: This retrospective study used electronic health records (EHRs) identified using a key word search for PROS terms recorded in provider clinical notes from January 01, 2007 through June 30, 2019 from the Optum EHR database, which included records from more than 140,000 providers. Both structured data fields and clinician review of provider open text notes were used to evaluate disease status. Results: A total of 657 patients had records with PROS search terms and 82 patients had records eligible for clinician review of provider notes. Following clinician review, 41.5% of patients were confirmed PROS positive, 25.6% were PROS negative, and 32.9% were not able to be categorized. All patients identified with confirmed/suspected PROS from provider notes and from the PROS-specific structured data cohort had an ambulatory visit and more than half had an inpatient stay or emergency visit during the study period. More than half of patients were also prescribed an antiseizure medication and three-fourths were prescribed pain medications. Conclusion: Distinguishing patients with PROS using a search-term strategy remained difficult, even after clinician review of individual provider notes. Patients identified as having PROS experienced a considerable clinical burden with high rates of medication use and frequent healthcare visits.