The management of transitional care of patients affected by phenylketonuria in Italy: Review and expert opinion.

Phenylketonuria (PKU) is a metabolic inherited disorder in which transition from infancy to adult care is particularly difficult and not sufficiently regulated. According to the scientific literature, only few medical centers offer healthcare assistance for adult patients with PKU that are therefore still treated in pediatric settings. This generates psychological, emotional, and organizational discomfort among patients, leading them to discontinue the follow-up. European guidelines and national consensus documents underline this unmet need and the lack of practical recommendations for a structured transitional pathway in PKU. The aim of this review and expert opinion is to propose good practices for managing the transition period of PKU patients, based on the literature and the experience of a panel of Italian experts in PKU. The consensus of the experts was obtained through the administration of three rounds of surveys and one structured interview. The result is the first proposal of a pathway for an efficient transition of PKU patients. Key steps of the proposed pathway are the "a priori" planning involving the pediatric and adult teams, the acceptance of the patient and his/her family to the process, the preliminary definition of appropriate spaces in the structure, the organization of meetings with the joint team, and the appointment of a transition coordinator. For the first time, the involvement of decision makers and patient associations is proposed.
Competing Interests: Declaration of Competing Interest GB received support for the medical writing of the manuscript from BioMarin Pharmaceutical Inc. and received a payment for expert testimony from Sobi, BioMarin Pharmaceutical Inc. and Vitaflo. LB received support for the medical writing of the manuscript from BioMarin Pharmaceutical Inc., received honoraria for lectures and presentations from BioMarin Pharmaceutical Inc. DN received paper funding from BioMarin Pharmaceutical Inc., personal funding from Sanofi Aventis as consulting fees, honoraria for lectures and presentations from Sanofi Aventis and Takeda, payment for expert testimony from BioMarin Pharmaceutical Inc., support for attending meetings from Sanofi Aventis and Takeda. FP received personal funding from BioMarin Pharmaceutical Inc., support for attending meetings from Vitaflo, participation on a Data Safety Monitoring Board/Advisory Board from BioMarin Pharmaceutical Inc. MLU received personal funding from BioMarin Pharmaceutical Inc. IB and AB have no conflict of interest to declare.
(Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)