Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund.

Szypowska, Agnieszka; Franek, Edward; J Grzeszczak, Władysław; Zięba, Mariusz; Filipow, Winicjusz; Kabicz, Paweł; Więckowska, Barbara; Sykut-Cegielska, Jolanta; Taybert, Joanna

INTRODUCTION To avoid the risk of intellectual disabilities, newborns in Poland are screened for phenylketonuria and are recommended to start a life-long phenylalanine-restricted diet shortly after birth. The aim of this paper is to evaluate the health care for patients with classical phenylketonuria in Poland. MATERIAL AND METHODS We reviewed the National Health Fund's reporting data concerning information on healthcare services for patients with classical phenylketonuria (PKU), which were reported to the payer by the healthcare service providers between 2009 and 2015. The analysis was prepared within the framework of mapping the health care needs of patients with metabolic diseases published in December 2016 (http://www.mapypotrzebzdrowotnych.mz.gov.pl/). RESULTS A total of 2706 patients with PKU (including 1180 children) were registered in the healthcare system in the period covered. The estimated national prevalence of PKU was 1 per 7758 live births. Paediatric patients up to 12 moths of age accounted for over 40% of all visits to outpatient clinics. Patients over 28 years of age accounted for only 1% of all PKU patients receiving specialist outpatient care. There were twice as many clinics providing health care to children than to adults. The majority of adult patients received healthcare from the same providers as children. Sixty-nine percent of adults and 64% of children were treated in the two largest outpatient centres. There were 12 deaths, with a median age of 63 years. The working-age adults accounted for 50% of the deaths. CONCLUSIONS Adult patients with PKU do not receive sufficient healthcare. The discontinuation of healthcare by adults with PKU can result from the lack of an adequate transition process from paediatric to adult care.