Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia.

Valentina Rovelli,Graziella Cefalo,Sabrina Paci,Elisabetta Salvatici,Vittoria Ercoli,Alice Re Dionigi,Raed Selmi,Juri Zuvadelli,Giuseppe Banderali

doi:10.3390/healthcare9111407

Valentina Rovelli, Graziella Cefalo + Show 7 more

Open Access

https://doi.org/10.3390/healthcare9111407

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Journal: Healthcare	Publication Date: Oct 20, 2021
Citations: 3	License type: CC BY 4.0

Affiliation: Ospedale San Paolo, University of Milan

Abstract

Phenylketonuria (PKU) and Hyperphenylalaninemia (HPA) are inborn errors of metabolism (IEM) due to mutations in the PAH gene resulting in increased blood phenylalanine (Phe) concentrations. Depending on the Phe levels, a lifelong dietary intervention may be needed. During the COVID-19 pandemic, finding new strategies to ensure follow-up and metabolic control for such patients became mandatory and telehealth was identified as the most eligible tool to provide care and assistance beyond barriers. The aim of this study was to evaluate how telehealth use may have impacted disease follow-ups. Seven hundred and fifty-five patients affected by PKU/HPA in follow-ups at the Clinical Department of Pediatrics (San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Italy) were included in this study. The data regarding the used telehealth model, type of performed consultations and patients’ perspectives were retrospectively collected and analyzed after a one-year experience of implemented follow-ups. The results demonstrated that telehealth seemed to be a useful tool to improve the adherence to treatment and that it could guarantee continuous assistance and care beyond the surrounding epidemiological status. Patients expressed great satisfaction with the offered services and requested that they were implemented in standards of care on a long-term basis. Our results suggested the implementation of telehealth in the management guidelines for PKU/HPA patients.

Highlights

The COVID-19 pandemic strongly impacted the lives of patients affected by chronic diseases, including those affected by inborn errors of metabolism such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) [1,2,3]
We must find new strategies to assure the management and care, of patients affected by COVID-19, and for all those patients affected by other diseases, mainly chronic diseases, who need ongoing medical care, especially patients affected by inborn errors of metabolism (IEM)
The world scenario in which we have recently found ourselves operating as healthcare providers has strongly impacted the available standards of clinical practice, especially regarding patients suffering from chronic diseases still in need of follow-ups and treatment during the pandemic

Summary

Introduction

The COVID-19 pandemic strongly impacted the lives of patients affected by chronic diseases, including those affected by inborn errors of metabolism such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) [1,2,3]. Phenylketonuria and hyperphenylalaninemia (PKU and HPA; OMIM 261600) are inborn errors of metabolism (IEMs) due to mutations in the PAH gene, normally coding for the liver enzyme phenylalanine hydroxylase (PAH, EC 1.14.16.1), which converts the aminoacid phenylalanine (Phe) into tyrosine (Tyr) [4]. For patients affected by hyperphenylalaninemia, no dietary/pharmacological intervention is required, still follow-ups may be needed for monitoring purposes, such as for preventing the possible consequences during the pregnancies of affected females [6]

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