Global perspectives on the burden and management of hypophosphataemic osteomalacia in adult patients: an International Osteoporosis Foundation (IOF) survey

Abstract

Summary: this survey collected global perspectives on the burden and management of hypophosphataemic osteomalacia in adults through the International Osteoporosis Foundation (IOF). The IOF network represents a valuable international resource for understanding the burden and management of rare bone disorders.

Purpose: to investigate the international burden and management of hypophosphataemic osteomalacia (HO) in adult patients.

Methods: a survey was developed consisting of seven questions about respondents and their experiences of managing HO, with a second section inviting additional non-identifying information on up to five patients. The survey was disseminated to the International Osteoporosis Foundation (IOF) network.

Results: forty clinicians from 24 countries responded, with most based in academic centres. Respondents reported managing over 1000 adult patients with HO, primarily diagnosed with X-linked hypophosphataemia (XLH; 35%), tumour-induced osteomalacia (TIO; 24%), and fibrous dysplasia/McCune–Albright syndrome (FD/MAS; 16%). Management varied by diagnosis, reflecting differences in the underlying pathophysiology and clinical manifestations of the disorders. Respondents provided additional information on 19 patients with XLH, 28 with TIO, and 9 with other HO disorders. Common symptoms across XLH and TIO included bone pain (XLH, 67%; TIO, 88%), muscle pain (XLH, 61%; TIO, 76%), and muscle weakness (XLH, 61%; TIO, 88%). Many patients with XLH had discontinued phosphate and vitamin D therapies, with a subset initiating burosumab treatment. In contrast, phosphate and vitamin D were commonly used in TIO, with many patients being considered for tumour resection and limited burosumab use. Pain medication use, including opiates, was relatively high across all patients.

Conclusion: adults with HO experience a significant burden of musculoskeletal symptoms. Future efforts should focus on global education of healthcare professionals. The IOF network represents a valuable international resource for understanding the burden and management of rare bone disorders.

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Identifiers

ORCID for Nicholas C. Harvey: orcid.org/0000-0002-8194-2512

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