Three Generations of X-Linked Hypophosphataemia: The Inter-generational Impact of Burosumab Across the Lifespan.
Maria Bilal, Shejil Kumar, Myra Poon et al.
✦ AI-curated · Sources linked
Case in brief
This case report describes three generations of a family affected by X-linked hypophosphataemia (XLH), each receiving burosumab therapy at different life stages. The patients exhibited varying responses to treatment, highlighting the influence of age and existing skeletal deformities on therapeutic outcomes. The report emphasizes the potential of burosumab to improve quality of life across generations.
What made this case unusual
The case uniquely illustrates the inter-generational impact of burosumab therapy in a familial context, showcasing the differential efficacy based on the timing of treatment initiation.
Diagnostic / clinical pearl
Clinicians should consider the age and skeletal status of XLH patients when initiating burosumab therapy, as these factors significantly influence treatment outcomes.
Why it matters
Understanding the varying responses to burosumab across different life stages can guide personalized treatment strategies for XLH, enhancing patient care and management.