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

ABSTRACT:

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 provi

SUBMITTER: Baroncelli GI 

PROVIDER: S-EPMC12518444 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature