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Purpose <p>X-linked hypophosphatemia (XLH) is a rare hereditary skeletal disorder that may be very disabling and significantly impacting the quality of life throughout the lifespan. The aim of this document was to inform stakeholders about the lifelong impact, management, and treatment of individuals with XLH, especially focusing on the new therapeutic approach with burosumab.</p> Methods <p>From October 2023 to April 2024, a multidisciplinary working group of Italian experts on bone and mineral metabolism convened periodic online meetings. Statements were formulated identifying the most relevant studies, including randomized controlled trials, international guidelines based on GRADE criteria, and systematic reviews, and the experts’ opinions.</p> Results <p>The panel of experts provided "consensus statements" on the clinical management of individuals with XLH across lifespan. Five main issues were identified: (1) clinical and biochemical diagnosis of individuals with XLH and monitoring of the progression of the disease; (2) effects of conventional treatment with phosphate supplements and active vitamin D metabolites; (3) effects of the treatment with burosumab; (4) multidisciplinary approach and management of individuals with XLH; (5) consensus statement for transition from pediatric to adult care in individuals with XLH.</p> Conclusion <p>Individuals with XLH often experience unmet needs throughout life; a multidisciplinary approach involving different specialists, is recommended. The new treatment with burosumab can provide an effective and safety therapeutic option in reducing the burden of the disease in both children and adults. Therefore, awareness about the XLH disease should be increased among stakeholders. The criteria and reimbursement policies of burosumab should be revised.</p>

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Experts’ consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月1日

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  • Giampiero Igli Baroncelli,
  • Marco Barale,
  • Maria Luisa Brandi,
  • Valentina Camozzi,
  • Silvia Carrara,
  • Manuela Caruso Nicoletti,
  • Elena Castellano,
  • Filomena Cetani,
  • Pasquale Comberiati,
  • Natascia Di Iorgi,
  • Cristina Eller-Vainicher,
  • Francesco Emma,
  • Danilo Fintini,
  • Sandro Giannini,
  • Laura Gianotti,
  • Anna Grandone,
  • Giorgia Grassi,
  • Stefano Mora,
  • Andrea Palermo,
  • Francesca Pigliaru,
  • Marco Pitea,
  • Massimo Procopio,
  • Vincenzo Rochira,
  • Rosaria Maddalena Ruggeri,
  • Barbara Ruggiero,
  • Stefano Stagi,
  • Giuseppe Vezzoli,
  • Sabrina Corbetta

摘要

Purpose

X-linked hypophosphatemia (XLH) is a rare hereditary skeletal disorder that may be very disabling and significantly impacting the quality of life throughout the lifespan. The aim of this document was to inform stakeholders about the lifelong impact, management, and treatment of individuals with XLH, especially focusing on the new therapeutic approach with burosumab.

Methods

From October 2023 to April 2024, a multidisciplinary working group of Italian experts on bone and mineral metabolism convened periodic online meetings. Statements were formulated identifying the most relevant studies, including randomized controlled trials, international guidelines based on GRADE criteria, and systematic reviews, and the experts’ opinions.

Results

The panel of experts provided "consensus statements" on the clinical management of individuals with XLH across lifespan. Five main issues were identified: (1) clinical and biochemical diagnosis of individuals with XLH and monitoring of the progression of the disease; (2) effects of conventional treatment with phosphate supplements and active vitamin D metabolites; (3) effects of the treatment with burosumab; (4) multidisciplinary approach and management of individuals with XLH; (5) consensus statement for transition from pediatric to adult care in individuals with XLH.

Conclusion

Individuals with XLH often experience unmet needs throughout life; a multidisciplinary approach involving different specialists, is recommended. The new treatment with burosumab can provide an effective and safety therapeutic option in reducing the burden of the disease in both children and adults. Therefore, awareness about the XLH disease should be increased among stakeholders. The criteria and reimbursement policies of burosumab should be revised.