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

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.

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review

“…Data on patients affected by PKU in Italy collected retrospectively from April 2019 to March 2021 demonstrated that telehealth seemed to be a useful tool to improve the adherence to treatment, it was more effective in reaching patients who made great effort to adhere to the clinic’s face-to-face appointments (such as the working patients) and guaranteed continuous assistance and care during the pandemic. Moreover, PKU patients expressed great satisfaction with the telemedicine offered services [ 15 ]. Data collected by surveys showed that caregivers of PKU pediatric patients in Poland reported better therapy compliance, more frequent contacts with specialists during the six-week pandemic period (Summer 2020) and more satisfaction with remote visits than adult patients [ 16 ].…”

Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

“…Like other remote medical assistance strategies which had a positive impact on IEMs patients during the pandemic [34,35], the program guaranteed continuous dietary supervision of our patients throughout lockdown periods, and allowed us to remotely implement emergency dietary adaptations in cases of acute illnesses. Odimet traffic analysis in the 5-year study period confirms the growing use of this tool.…”

The organizational dimension in rare diseases care management: an application of RarERN Path© methodology in the rare neurological diseases Ataxia, Dystonia and Phenylketonuria

“…The early detection of HPA and its treatment can prevent neurological damags [24][25][26][27][28][29] . The patients are referred to the specialized metabolic centers in different ways.…”

“…Finally, the organization of biochemical laboratory tests (blood Phe measurements) should be mandatory. The primary goal of treatment is normal neurocognitive and psychosocial functioning [24][25][26][27][28][29] . PKU treatment consists of dietary management: natural protein restriction, Phe-free/low phenylalanine protein in substitutes, and low protein (LP) special food.…”