22/02/2025
An International Working Group (IWG) has developed updated guidelines for the diagnosis, evaluation, management, and monitoring of X-linked hypophosphatemia (XLH) in pediatric patients. Over the past five years, significant advancements have enhanced the understanding of XLH, including its clinical presentation, associated complications, and treatment approaches.
To establish these guidelines, a multidisciplinary panel of 50 international experts in XLH, representing Canada, the United States, Europe, Asia, and South America, collaborated with methodology specialists and patient partners. Between 2023 and 2024, the group conducted 18 teleconference meetings to address key aspects of XLH care in children. As part of this process, two systematic reviews were undertaken: one comparing the efficacy of Burosumab with conventional therapy (phosphate salts and active vitamin D) or no treatment, and another evaluating the impact of conventional therapy versus no treatment on patient-important outcomes. The certainty of evidence was assessed using the GRADE methodology. Additionally, narrative reviews were conducted to examine the diagnosis of XLH and the role of genetic testing, while an expert clinical practice survey informed the recommendations for disease monitoring.
For access to the full guidelines, refer to the published PDF at the following. on the link below:
AbstractBackground. An International Working Group (IWG) developed new guidelines on the diagnosis, evaluation, management, and monitoring of X-linked hypo
