摘要：Background Foods for Special Medical purposes (Phe-free protein substitutes [PS] and low protein foods [LPFs]) are central to successful dietary management of patients with phenylketonuria (PKU). In the UK, PS and LPFs are prescribed by primary care general practitioners (GPs) and dispensed by high street pharmacists or via home delivery companies. As patients and carers commonly reported access issues with PS and LPFs through the National Society for PKU (NSPKU) helpline, the NSPKU collected more information about the extent of prescriptions issues via a questionnaire. Methods A cross sectional online survey was carried out consisting of 7 multiple choice and 3 open questions. The questionnaire was available via the NSPKU website over a 9-month period (15th May 2018–31st January 2019). Carers or patients with PKU were invited to participate if they had any problems accessing PS and LPF. Results There were 252 responses. 65% for children and 35% for adults, aged ≥18y with PKU. 59% ( n = 146/246) of responses described difficulties accessing basic LPF (bread, pasta) and 33% ( n = 81/248) PS. 36% ( n = 88/248) said problems had re-occurred >1y, and 40% ( n = 99/248) for <3 months. 59% ( n = 146/246) had supply issues with LPF and 33% ( n = 81/246) with PS. 18% ( n = 42/234) reported that the local NHS authority had refused, restricted or had a policy to block treatment access; 27% ( n = 63/234) cited GPs declining requests or restricting prescription amounts. 21% ( n = 49/234) could not access all their products via a pharmacy, 40% ( n = 93/234) said their home delivery system failed, and 15% ( n = 34/234) of the dispensed prescribed products were out of date, incorrect, damaged or poor quality. For patients and carers these issues caused: stress (87%, n = 210/241); they considered PKU was not taken seriously by professionals (66%, n = 160/241); they reduced patient access to LPF and PS (53%, n = 128/241); and affected the patients' health (53%, n = 128/241). Discussion Access to PKU dietary treatment is frequently disrupted for reasons relating to GP prescriptions and unreliable dispensing and delivery practices. These issues require immediate attention by UK health professionals in order to create a fairer and more efficient system for everyone.
关键词：Phenylketonuria ; Phenylalanine ; Diet ; Low protein special foods ; Protein substitutes
