Presentation (CTI)

OBJECTIVES: Prader-Willi syndrome (PWS) is a rare genetic disorder with a median age of death of 23 years (McCandless et al., 2020). Butler et al. (2017) concluded that individuals with PWS show heightened hyperphagia-related mortality (e.g. high rates of choking, accidents, and gastrointestinal perforation), contribute to one third of all US reported deaths. This analysis examined the utilization of emergency department (ED) visits and inpatient (IP) stays to inform the burden of PWS on patients and healthcare systems.
METHODS: Observational retrospective analysis was performed on a de-identified US closed-claims dataset (2021-2023). Patients (pts) with ≥2 claims, and a PWS diagnosis (Q87.11) >2 weeks apart were included. In this cross-sectional analysis, pts were assigned to one of five age groups (<12, 12-23, 24-35, 36-47, 48-59 years-old). All statistics were descriptive and annualized. All diagnostic/service codes from this three-year period were included.
RESULTS: This study included 3685 pts (<12: 33.19%; 12-23: 30.53%; 24-35: 17.20%; 36-47: 9.50%; 48-59: 7.06%). The average annual ED visit rate was 0.93 visits/pt and ranged from 0.71 in the <12 group, to 1.35 in the 24-35 group. Pts with ≥1 visit averaged 1.25 (<12 group) to 1.92 visits (24-35 group) annually. For inpatient stays, the average annual rate was 3.75 stays/pt, ranging from 3.00 (24-35 group) to 4.63 (36-47 group).
CONCLUSIONS: These results validate previous studies examining healthcare resource utilization of PWS patients. The high utilization of ED and IP services were observed for all age groups, despite a dwindling population size as a function of age due to mortality. Utilization of ED and IP services were >4 times higher in pediatric PWS patients vs the general pediatric population (2019 CDC data). These real-world analyses illustrate the considerable burden of PWS on patients, and the US healthcare system, highlighting the considerable need for treatment of hyperphagia in PWS.