Development of an overdue outreach program to improve adherence to PKU management

ABSTRACT

Background: Phenylketonuria (PKU) is an inherited autosomal recessive disorder caused by variants in the PAH gene which encodes for phenylalanine hydroxylase (PAH). PKU, left untreated, can cause intellectual disability, psychiatric symptoms, and behavioral abnormalities. Lifelong management of PKU is challenging, and many adult patients become lost to follow-up, despite recommendations for lifelong management. Method(s) The PKU clinic team is a multidisciplinary team consisting of an APN Director, physician, dieticians, diet tech, genetic counselor, registered nurse, and social worker. After establishing formal guidelines, algorithms were created to determine thresholds for initiating patient outreach based on both age and type of PKU treatment. EMRbased data collection is used to track adherence to both clinic visits and consistent submission of Phe levels. Data was collected and analyzed for roughly 250 PKU patients. Baseline levels for adherence to clinic visits and filter card submission were collected at time of implementation. Data was then reviewed after 18 months, and has been further analyzed for a second 18 months (which correlates with the start of the COVID-19 pandemic) Results: Overall baseline adherence across the population for annual clinic visitswas 72% (144/200). Clinic visit adherence increased to 88% at 18 months, and then was similar at 86% through COVID-19 pandemic. In the adult population, 54% (57/106) were adherent at baseline with clinic follow-up. With implementation compliance increased to 80% initially and was then reported to be 74% during the pandemic. Baseline for all PKU patients showed 81% (161/200) filter card submission within the last 12 months. Submission increased to 91% after 18 months of overdue outreach, and as of October 2021, 85% of all patients had submitted a filter card within the last calendar year. Adult patients specifically showed an increase, with 53% at baseline to 69% after implementation. Conclusion(s) Implementation of an overdue outreach program is successful in re-engaging patients with the PKU clinic and improving adherence to treatment recommendations. We have seen increased patient adherence across all domains and have maintained this improved adherence despite the global COVID-19 pandemic.Copyright © 2022 Elsevier Inc. All rights reserved.