Phenylketonuria (Pku): quality of life through integrated care pathways

Rare diseases represent one of the most complex and topical challenges for the healthcare system in Italia. With more than 6 thousand identified pathologies and between 2 and 3.5 million people affected, they require highly specialised interventions, capable of guaranteeing timely diagnosis, equal access to treatment and personalised care paths. Phenylketonuria (PKU) is an emblematic example of a rare disease that manifests itself in paediatric age, accompanying the patient throughout life with a significant economic and social impact.

PKU has an estimated incidence of 1 case every 4,000 births and requires continuous care, but for which major criticalities still persist in terms of continuity of care, territorial equity and access to multidisciplinary pathways, especially in the transition to adulthood. In order to identify possible solutions and guarantee more homogeneous, sustainable and equitable care paths throughout the country, Apco has promoted a health talks bringing together representatives of institutions, clinicians and experts in the field. At the centre of the debate was the need to overcome regional inequalities, strengthen continuity of care and promote truly multidisciplinary models of care, capable of integrating clinical, nutritional and psychosocial aspects.

'PKU represents an emblematic example of the challenges that our healthcare system is called upon to face in the field of rare diseases,' said Senator Orfeo Mazzella (M5S), vice-chairman of the Senate Social Affairs Commission and promoter of the Parliamentary Intergroup on Rare Diseases. - As the Parliamentary Intergroup, our commitment is to keep the institutional attention on these pathologies high, favouring a constant dialogue with all the actors involved and working to ensure that the models of care are increasingly homogeneous, continuous and fair, regardless of the territory of residence'.

During the event, it emerged how, despite the availability of fundamental tools such as neonatal screening and referral centres, major critical issues persist in the transition phase from paediatric to adult age, in therapeutic adherence and access to adequate support services, with a direct impact on the quality of life of people with PKU and their families.

"Having reliable and up-to-date data is an essential element to effectively plan the care of rare diseases," pointed out Paola Torreri, First Researcher of the National Centre for Rare Diseases and Head of the National Rare Disease Registry of the Istituto Superiore di Sanità (Iss). Registries are a key tool for understanding the real needs of patients, monitoring care pathways, and supporting governance decisions oriented towards equity, continuity of care, and improved long-term outcomes'.