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

Phenylketonuria (PKU) and Hyperphenylalaninemia (HPA) are inborn errors of metabolism (IEM) due to mutations in the <i>PAH</i> gene resulting in increased blood phenylalanine (Phe) concentrations. Depending on the Phe levels, a lifelong dietary intervention may be needed. During the COVI...

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Autores principales:	Valentina Rovelli, Juri Zuvadelli, Sabrina Paci, Vittoria Ercoli, Alice Re Dionigi, Raed Selmi, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	phenylketonuria PKU hyperphenylalaninemia HPA telehealth COVID-19 Medicine R
Acceso en línea:	https://doaj.org/article/f58748ea40f0415aab514bad15139e0c
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spelling	oai:doaj.org-article:f58748ea40f0415aab514bad15139e0c2021-11-25T17:43:33ZTelehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia10.3390/healthcare91114072227-9032https://doaj.org/article/f58748ea40f0415aab514bad15139e0c2021-10-01T00:00:00Zhttps://www.mdpi.com/2227-9032/9/11/1407https://doaj.org/toc/2227-9032Phenylketonuria (PKU) and Hyperphenylalaninemia (HPA) are inborn errors of metabolism (IEM) due to mutations in the <i>PAH</i> 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.Valentina RovelliJuri ZuvadelliSabrina PaciVittoria ErcoliAlice Re DionigiRaed SelmiElisabetta SalvaticiGraziella CefaloGiuseppe BanderaliMDPI AGarticlephenylketonuriaPKUhyperphenylalaninemiaHPAtelehealthCOVID-19MedicineRENHealthcare, Vol 9, Iss 1407, p 1407 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	phenylketonuria PKU hyperphenylalaninemia HPA telehealth COVID-19 Medicine R
spellingShingle	phenylketonuria PKU hyperphenylalaninemia HPA telehealth COVID-19 Medicine R Valentina Rovelli Juri Zuvadelli Sabrina Paci Vittoria Ercoli Alice Re Dionigi Raed Selmi Elisabetta Salvatici Graziella Cefalo Giuseppe Banderali Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
description	Phenylketonuria (PKU) and Hyperphenylalaninemia (HPA) are inborn errors of metabolism (IEM) due to mutations in the <i>PAH</i> 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.
format	article
author	Valentina Rovelli Juri Zuvadelli Sabrina Paci Vittoria Ercoli Alice Re Dionigi Raed Selmi Elisabetta Salvatici Graziella Cefalo Giuseppe Banderali
author_facet	Valentina Rovelli Juri Zuvadelli Sabrina Paci Vittoria Ercoli Alice Re Dionigi Raed Selmi Elisabetta Salvatici Graziella Cefalo Giuseppe Banderali
author_sort	Valentina Rovelli
title	Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
title_short	Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
title_full	Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
title_fullStr	Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
title_full_unstemmed	Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
title_sort	telehealth and covid-19: empowering standards of management for patients affected by phenylketonuria and hyperphenylalaninemia
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/f58748ea40f0415aab514bad15139e0c
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Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia

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