Health-related quality of life in a european sample of adults with early-treated classical PKU

Orphanet Journal of Rare Diseases

Research

Michel Hochuli¹  Stephanie Maissen-Abgottspon¹  Roman Trepp¹  Regula Everts²  Raphaela Muri³  Péter Reismann⁴  András Gellért Barta⁴  Alberto B. Burlina⁵  Chiara Cazzorla⁵  Álvaro Hermida-Ameijeiras⁶  Ismail Mucahit Alptekin⁷  Alessandro P. Burlina⁸  Jessica Carretta⁸ 

[1] Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland;Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland;Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland;Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland;Support Center for Advanced Neuroimaging (SCAN), Institute of Diagnostic and Interventional Neuroradiology, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland;Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary;Division of Inborn Metabolic Diseases, Department of Pediatrics, University Hospital, Padua, Italy;Division of Internal Medicine, European Reference Network for Hereditary Metabolic Disorders (MetabERN), University Clinical Hospital, Santiago de Compostela, Spain;Faculty of Health Sciences, Department of Nutrition and Dietetics, Ankara University, Ankara, Turkey;Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy;

关键词: Phenylketonuria;    Health-related quality of life;    Inherited metabolic disease;    Cognition;    Metabolic control;   

DOI  :  10.1186/s13023-023-02917-w

 received in 2023-01-04, accepted in 2023-09-11,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundPhenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL. Hence, we aimed to investigate HRQoL and its association with demographic, metabolic, and cognitive characteristics in a large European sample of adults with early-treated classical PKU.ResultsThis cross-sectional study included 124 adults with early-treated classical PKU from Hungary, Italy, Spain, Switzerland, and Turkey. All participants prospectively completed the PKU quality of life questionnaire (PKU-QoL), a questionnaire specifically designed to evaluate the impact of PKU and its treatment on HRQoL in individuals with PKU. In addition, information about Phe levels (concurrent and past year), demographic (age and sex), and cognitive variables (intelligence quotient, IQ) were collected. Most domains revealed little or no impact of PKU on HRQoL and more than three-quarters of the patients rated their health status as good, very good, or excellent. Nevertheless, some areas of concern for patients were identified. Patients were worried about the guilt that they experience if they do not adhere to the dietary protein restriction and they were most concerned about high Phe levels during pregnancy. Further, tiredness was the most affected symptom, and the supplements’ taste was considered a main issue for individuals with PKU. The overall impact of PKU on HRQoL was higher in women (U = 1315.5, p = .012) and in adults with a lower IQ (rs = − 0.448, p = .005). The overall impact of dietary protein restriction was higher in adults with higher concurrent Phe levels (rs = 0.272, p = .007) and higher Phe levels during the past year (rs = 0.280, p = .009).ConclusionThe impact of PKU on most domains assessed in the PKU-QoL was considered to be low. These results likely reflect the successful implementation of the newborn screening resulting in the prevention of severe adverse long-term outcomes. However, a particular clinical focus should be given to patients with lower IQ, higher Phe levels, and women, as these variables were associated with a lower HRQoL.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

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