The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands

Abstract Background Phenylketonuria (PKU) is a rare inborn error of metabolism that affects the ability of patients to metabolise phenylalanine (Phe). Lifelong management of blood Phe levels is required in order to avoid the complications associated with PKU. This constitutes a severely protein restricted diet, and regular monitoring of Phe levels. Management of PKU may be costly and time-consuming for adult patients or caregivers of PKU-affected children. A cross-sectional study was performed with patients or their caregivers in the Netherlands to gain insight into the personal time burden and cost of living with PKU. Methods A systematic literature review was performed to identify all aspects of PKU management that may pose a financial or time burden on patients or caregivers. Findings were confirmed through interviews with PKU experts and feedback from patients and caregivers, and consolidated into a questionnaire that aimed to evaluate the impact of each of these factors. Early and continuously treated adult patients and caregivers from seven metabolic centres were recruited to complete the questionnaire online. Results 22 adult patients and 24 caregivers participated in the study. Managing a Phe-restricted diet represented an extra time burden of 1 h and 24 min for caregivers and 30 min for adult patients per day. Caregivers reported a significantly higher time burden than adult patients. The median total out-of-pocket cost (OOPC) for patients was €604 annually, with 99% of expenditure on low-protein food products. Greater disease severity was significantly associated with increased OOPC and time burden for both adult patients and caregivers. Conclusions Management of PKU is associated with a considerable time burden for both caregivers of children with PKU and adult patients. Caregivers of PKU-affected children reported a significantly higher time burden than adult patients. The OOPC of caregivers and patients was mainly driven by the expenditure on low protein food

Living with Phenylketonuria: lessons from the PKU community

Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children. Methods: In the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018 by the NSPKU (National Society for Phenylketonuria). Results: 631 participants (adults, n=338; parents/caregivers of children, n=293) with PKU completed the questionnaire. Problems experienced by children with PKU were: difficulty with maintaining focus (48%,n=114/236), educational difficulties (28%, n=67/236), anxiety or depression (29%, n=68/236), and gastrointestinal symptoms (34%, n=97/282). Fifty one per cent (n=120/236) described social exclusion; 17% (n=41/236) had relationship issues with friends or family. Problems experienced by adults were: depression or anxiety (52%, n=148/286), difficulty maintaining focus (54%, n=154/286), and low mood (54%, n=180/334). Difficulties were experienced with relationships (34%, n=96/286); social exclusion (44%, n=126/286); and gastrointestinal issues (n=34%, n=112/334). Common medications used included antidepressants (40%, n=131/331) and anxiolytics (18%, n=60/334). Discussions: Adults with PKU or caregivers/parents of children identified significant neurocognitive, mental health and general health issues. Limits on socialisation, perception of social isolation and dietary stigma are major obstacles which are difficult to overcome with conventional dietary management