<p>X-linked hypophosphatemia (XLH) is the most prevalent genetic cause of hypophosphataemia and rickets in developed countries. As a rare, chronic, and multisystemic disorder, XLH typically manifests within the first year of life and gradually progresses into adulthood. Managing this condition requires a multidisciplinary approach, involving healthcare professionals who can meet the evolving needs of patients throughout their lifespan. Interest in XLH has significantly increased since the introduction of a novel treatment in 2018. This advancement shifted the perception of XLH from being primarily a paediatric disorder to a chronic, lifelong condition. Consequently, the long-term implications and progressive nature of XLH have gained renewed attention. One critical aspect of managing XLH is the establishment of a structured healthcare transition (HCT) process that facilitates the shift from paediatric to adult care. This transition is essential to prevent discontinuity in care, ensure the sustainability of achieved health outcomes, and reduce the risk of complications. Experiences from other chronic, paediatric-onset diseases underscore the importance of HCT as a crucial phase in successful long-term healthcare management. This process requires coordinated collaboration between paediatric services, which prepare the patient for transition, and adult services, which receive the patient and continue care. Currently, Italy lacks a standardised, universally adopted HCT model for XLH. Developing a cohesive transition pathway faces several obstacles. The rarity of XLH makes it challenging to identify clinicians with specific expertise and to assemble effective multidisciplinary teams that span paediatric and adult specialties. Additionally, regional disparities in healthcare policy and variability in patient needs contribute to the complexity. These factors impede the formation of a unified and efficient transition framework. Despite these challenges, expert consensus and published recommendations offer useful models to guide the development of HCT strategies tailored to XLH. Even in the absence of condition-specific national guidelines, it is possible to create effective care pathways by drawing on established principles from other chronic diseases. This review seeks to define the goals of healthcare transition for XLH patients, analyse key barriers, and provide insights into the current clinical context in Italy. The ultimate aim is to support the development of structured, individualised care models that ensure continuity and quality of care for patients transitioning from paediatric to adult services.</p>

Transizione dalla pediatria all’endocrinologo dell’adulto nei pazienti XLH

期刊论文
发表日期：

2025年10月27日

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Francesca Aiello,
Anna Grandone

摘要

X-linked hypophosphatemia (XLH) is the most prevalent genetic cause of hypophosphataemia and rickets in developed countries. As a rare, chronic, and multisystemic disorder, XLH typically manifests within the first year of life and gradually progresses into adulthood. Managing this condition requires a multidisciplinary approach, involving healthcare professionals who can meet the evolving needs of patients throughout their lifespan. Interest in XLH has significantly increased since the introduction of a novel treatment in 2018. This advancement shifted the perception of XLH from being primarily a paediatric disorder to a chronic, lifelong condition. Consequently, the long-term implications and progressive nature of XLH have gained renewed attention. One critical aspect of managing XLH is the establishment of a structured healthcare transition (HCT) process that facilitates the shift from paediatric to adult care. This transition is essential to prevent discontinuity in care, ensure the sustainability of achieved health outcomes, and reduce the risk of complications. Experiences from other chronic, paediatric-onset diseases underscore the importance of HCT as a crucial phase in successful long-term healthcare management. This process requires coordinated collaboration between paediatric services, which prepare the patient for transition, and adult services, which receive the patient and continue care. Currently, Italy lacks a standardised, universally adopted HCT model for XLH. Developing a cohesive transition pathway faces several obstacles. The rarity of XLH makes it challenging to identify clinicians with specific expertise and to assemble effective multidisciplinary teams that span paediatric and adult specialties. Additionally, regional disparities in healthcare policy and variability in patient needs contribute to the complexity. These factors impede the formation of a unified and efficient transition framework. Despite these challenges, expert consensus and published recommendations offer useful models to guide the development of HCT strategies tailored to XLH. Even in the absence of condition-specific national guidelines, it is possible to create effective care pathways by drawing on established principles from other chronic diseases. This review seeks to define the goals of healthcare transition for XLH patients, analyse key barriers, and provide insights into the current clinical context in Italy. The ultimate aim is to support the development of structured, individualised care models that ensure continuity and quality of care for patients transitioning from paediatric to adult services.