RESUMEN
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.
RESUMEN
Background: Nutrition therapy is crucial in the management of aminoacidopathies. The goal during critical illness is to reverse catabolism by providing sufficient energy and non-offending amino acids (AAs). If the patient's condition is unstable, tolerance of adequate enteral nutrition (EN) to promote anabolism may not be feasible. Parental nutrition (PN) may be necessary to meet nutrition goals, however standard preparations of PN are contraindicated. Integrity Compounding Pharmacy [Sandy Springs, GA] offers specialty compounding options tailored to provide PN to critically ill patients with aminoacidopathies void of offending AAs. Method(s): Retrospective chart review was performed. Patient Awas a 4-day old twin female born at 31-weeks gestation with phenylketonuria (PKU) hospitalized for prematurity and respiratory failure. Patient B was a 4-day old female, sibling of patient A, also with PKU hospitalized due to prematurity, respiratory failure and ductal dependent pulmonic stenosis. Patient C was a 26 year old male with maple syrup urine disease (MSUD) admitted for metabolic decompensation and respiratory failure in the setting of novel Covid-19 virus. Patient Dwas an 8 year old female with MSUD presenting with nausea and vomiting in the setting of novel Covid-19 virus. All four patients experienced elevated blood levels of offending AAs and inadequate EN intake. Custom PN from Integrity Compounding Pharmacy was utilized in all four patients ranging from 6 to 11 days. Patient A, B and D received custom PN as sole source nutrition for a period of time while transitioning to EN. Patient C tolerated a small amount of EN as well as custom PN to meet nutrition goals. Result(s): The Integrity custom PN provided appropriate AAs to optimize nutrition until full EN could be tolerated. This essential nutrition therapy helped reverse catabolism, achieve metabolic control and prevent further sequelae. Conclusion(s): Custom PN should be considered in critically ill patients with aminoacidopathies that have significant EN intolerance.Copyright © 2022 Elsevier Inc. All rights reserved.
RESUMEN
Introduction: Phenylketonuria (PKU) is an inherited autosomal recessive disorder caused by variants in the PAH gene which encodes for phenylalanine hydroxylase (PAH). PAH deficiency leads to phenylalanine (Phe) accumulation, which untreated can cause intellectual disability, microcephaly, delayed speech, seizures, psychiatric symptoms, and behavioral abnormalities. Early detection of elevated Phe through newborn screening allows for rapid initiation of a Phe-restricted diet to prevent severe neurological outcomes;however, suboptimal Phe control throughout the lifespan is associated with increased rates of psychiatric illness and deficits in executive function even in early treated patients. Lifelong management of PKU is challenging, and it is well documented that many adult patients become lost to follow-up, despite the American College of Medical Genetics recommendation for lifelong management. Here we describe and evaluate efforts to improve follow-up care for patients with PKU of all ages at one center through formalization of clinic guidelines and creation of an overdue outreach program. Methods: The PKU clinic team is a multidisciplinary team consisting of an APN Director, physician, dieticians, diet tech, genetic counselor, registered nurse, and social worker. Regular meetings were scheduled with all clinic staff members to review PKU treatment guidelines, recommended lab monitoring, and visit frequency. After establishing formal guidelines, algorithms were created to determine thresholds for initiating patient outreach based on both age and type of PKU treatment. EMR-based data collection is used to track adherence to both clinic visits and consistent submission of Phe levels. Data was collected and analyzed for Lurie Children’s PKU program, which consists of roughly 250 patients. Baseline levels for adherence to clinic visits and filter card submission were collected at time of implementation. Data was then collected and analyzed initially 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 PKU patient population for annual clinic visits was 72% (144/200). Clinic visit adherence increased to 88% at 18 months, and then was essentially unchanged at 86% through COVID-19 pandemic. In the pediatric patient population, annual clinic follow-up adherence was 92% (79/86) at baseline, which increased to 98% with implementation and maintained 98% during the pandemic. In the adult patient 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. Hyperphenylalaninemia (hyperphe) patients over the age of 2 showed an 18% (5/28) submission at baseline. With the overdue outreach program, this increased to 31% of patients initially and has further increased to 39%. Clinic visits for patients greater than 7 years old rose from 13% (3/24) initially to 57% and has further increased to 67%. Conclusion: Implementation of a coordinated 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. We believe that integrating overdue outreach guidelines into clinical practice is a replicable model for PKU clinics.