Journal Article

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia

Kanis, John A, Minisola Salvatore, Rosa, Mario Miguel, Mindler, Gabriel T, Brandi, Maria Luisa, Seefried Lothar, Marques Andréa, Cooper, Cyrus, Harvey, Nicholas C, Harvengt Pol, Cannata-Andía, Jorge B, Chandran Manju, Chaussain Catherine, Al-Daghri, Nasser, Javaid Muhammad Kassim, Laslop Andrea, Yerro María Concepción Prieto, Zanchetta, María Belén, Trombetti, Andrea, Jiwa Famida, Laurent, Michaël R, Cipullo Lucia, Linglart Agnès, Vlaskovska Mila, Cavalier Etienne, Rizzoli René, Haffner Dieter

2022

Overview

X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23). In addition to rickets and osteomalacia, patients with XLH have a heavy disease burden with enthesopathies, osteoarthritis, pseudofractures and dental complications, all of which contribute to reduced quality of life. This Consensus Statement presents the outcomes of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, and provides robust clinical evidence on management in XLH, with an emphasis on patients’ experiences and needs. During growth, conventional treatment with phosphate supplements and active vitamin D metabolites (such as calcitriol) improves growth, ameliorates leg deformities and dental manifestations, and reduces pain. The continuation of conventional treatment in symptom-free adults is still debated. A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to clarify its long-term efficacy, particularly in adults. Given the diversity of symptoms and complications, an interdisciplinary approach to management is of paramount importance. The focus of treatment should be not only on the physical manifestations and challenges associated with XLH and other FGF23-mediated hypophosphataemia syndromes, but also on the major psychological and social impact of the disease.This Consensus Statement provides robust clinical evidence on the multidisciplinary management of children and adults with X-linked hypophosphataemia, with an emphasis on patients’ experiences and needs. It is the outcome of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases.

• Publisher: Nature Publishing Group
• Subject: Arthritis / Calcitriol / Dietary supplements / Fibroblast growth factor 23 / Hypophosphatemia / Interdisciplinary aspects / Medical treatment / Monoclonal antibodies / Musculoskeletal diseases / Osteoarthritis / Osteomalacia / Osteoporosis / Patients / Quality of life / Rickets / Vitamin D / Working groups