Introduction to X-linked hypophosphataemia (XLH) and XLH Matters
Background
Overview of XLH Matters 2022
XLH Matters is an international, annual networking event for clinicians working in XLH across a range of specialities and geographical regions. The XLH Matters series is a forum for international XLH expert clinicians to: share latest clinical research, including real-world data; discuss challenges with managing XLH; and identify approaches to improve the outcomes of people living with XLH. The inaugural XLH Matters was held virtually in 2021, with the second meeting held in person in Madrid in October 2022. At XLH Matters 2022, there were 73 in-person attendees representing 18 countries across Europe and the Middle East. The third meeting was planned in June 2023 in Frankfurt and will build on topics discussed during the previous meetings |
Workshop 1: The multiple clinical manifestations of XLH | |
Part 1 | Attendees were split into 13 groups and asked to list all children, adult and overlapping manifestations of XLH |
Part 2 | Attendees were asked to identify the XLH manifestations that, as a group, they considered to be well known, commonly missed and challenging in their clinical practice |
Workshop 2: Establishing treatment goals for people living with XLH | |
Part 1 | Attendees were split into 13 groups†. In their groups, attendees listed the treatment goals for patients and healthcare professionals |
Part 2 | Attendees were then asked to identify the treatment goals that, as a group, they considered to be (1) most important and (2) most challenging |
Workshop 3: Challenges of transition from paediatric to adult care | |
Part 1 | Attendees were split into 13 groups and asked to select their top 3 transition challenges, as a group |
Part 2 | Co-chairs facilitated a discussion with all attendees and established the top 10 transition challenges |
Part 3 | Attendees then voted individually for their highest-ranking transition challenge |
Aim of this supplement
The multiple clinical manifestations of X-linked hypophosphataemia (XLH)
Background
An underestimated burden of disease
XLH Matters 2022 discussion
• All attendees listed short stature and dental abscesses/disease as a common manifestation of XLH in children and adults | |
• Most attendees listed dental abscesses/disease, hearing loss, chronic pain and psychological/psychosocial manifestations as commonly missed manifestations, with many also finding it a challenging manifestation to manage in both children and adults | |
• Other commonly missed manifestations in children and adults included obesity and scoliosis |
• Craniosynostosis and delayed growth were both identified as commonly missed and challenging manifestations to manage in children | |
• Attendees identified rickets as a challenging manifestation to manage in children |
• Enthesopathies were identified as a commonly missed manifestation and the most challenging to manage in adults | |
• Other commonly missed manifestations in adults included spinal stenosis and hypertension, and pseudofractures, renal impairment and obstetric complications were agreed to be the most challenging to manage |
Importance of a multidisciplinary approach
Concluding remarks
Establishing treatment goals for people living with X-linked hypophosphataemia (XLH)
Background
1. Biomarkers (e.g. alkaline phosphatase levels) | |
2. Clinical manifestations (e.g. lower limb deformities, linear growth) | |
3. Imaging (e.g. pseudofracture healing, deformity analysis) | |
4. Patient-reported outcomes (e.g. pain) | |
Defining treatment goals in XLH
XLH Matters 2022 discussion
Agreeing individual care plans
Concluding remarks
Challenges of transition from paediatric to adult care in X-linked hypophosphataemia (XLH)
Background
Transition challenges
Existing recommendations
XLH Matters 2022 discussion
Optimising the transition process
Concluding remarks
• Prepare young people for transition early | |
• To promote a gradual increase in disease knowledge and development of self-management skills | |
• Utilise technology platforms familiar to young adults to provide educational resources and encourage engagement | |
• Families may require additional support to encourage the empowerment of adolescents | |
• Assess transition readiness and disease knowledge regularly to continually address gaps | |
• Assessment tools are available worldwide, including the Ready, Steady, Go programme and TRAQ | |
• Adolescents and their families may require access to psychological support and resources | |
• Ensure collaboration between paediatric and adult clinicians to enable comprehensive planning and transition preparation | |
• Early communication and transfer of medical information allows adult clinicians to understand the individual needs of those in their care | |
• A primary coordinator/point of contact during and after transition can aid successful transfer to adult services | |
• Introduce adolescents to their new adult team prior to transfer | |
• Shared visits between paediatric and adult services may be beneficial prior to transfer | |
• Efforts to verify successful transfer are needed with further opportunities to engage provided if necessary |