A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

Abstract

Background In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe cognitive impairment. Blood Phe concentration is the main biochemical monitoring parameter. Between appointments and venous blood sampling, Austrian PKU patients send dried blood spots (DBS) for Phe measurements to their centre. Coronavirus disease-19 (COVID-19), caused by the SARS CoV-2 virus, was classified as a pandemic by the World Health Organization in March 2020. In Austria, two nationwide lockdowns were installed during the first and second pandemic wave with variable regional and national restrictions in between. This retrospective questionnaire study compared the frequency of Phe measurements and Phe concentrations during lockdown with the respective period of the previous year in children and adolescents with PKU and explored potential influencing factors. Results 77 patients (30 female, 47 male; mean age 12.4 [8–19] years in 2020) from five centres were included. The decline of venous samples taken on appointments in 2020 did not reach significance but the number of patients with none or only one DBS tripled from 4 (5.2%) in 2019 to 12 (15.6%) in 2020. Significantly more patients had a decline than a rise in the number of DBS sent in between 2019 and 2020 (p < 0.001; Chi2 = 14.79). Especially patients ≥ 16 years sent significantly less DBS in 2020 (T = 156, p = 0.02, r = 0.49). In patients who adhered to DBS measurements, Phe concentrations remained stable. Male or female sex and dietary only versus dietary plus sapropterin treatment did not influence frequency of measurements and median Phe. Conclusion During the COVID pandemic, the number of PKU patients who stopped sending DBS to their metabolic centre increased significantly, especially among those older than 16 years. Those who kept up sending DBS maintained stable Phe concentrations. Our follow-up system, which is based on DBS sent in by patients to trigger communication with the metabolic team served adherent patients well. It failed, however, to actively retrieve patients who stopped or reduced Phe measurements.

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

“…Our results highlight how telehealth use can result in positive changes of outcomes for patients affected by chronic diseases, such as PKU and HPA, and add insights to be considered for other IEM-affected populations for potential future applications [1,3,22,26,27]. Telehealth services allow patients to be reached more effectively and quickly, facilitating them to obtain access to the clinic and receive assistance regardless of their geographical location and/or possibilities to travel/take days off work.…”

“…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].…”

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

“…Despite the movement restrictions and the quarantine measures that many countries implemented during the COVID-19 pandemic, newborn screening and metabolic controls did not experience a discontinuity in especially for children and adolescent patients in Hungary and Italy [ 34 – 35 ]. On the contrary, adherence to the recommended measurement intervals decreased during the pandemic for PKU patients over 16 years and young adults in Austria [ 36 ].…”