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Acquired Osteomalacia Associated with Autoantibodies against PHEX

Article Number: SIS804926AI080825
8th August, 2025
Author(s):
Yoshitomo Hoshino, Kazuo Okamoto, Tomohiro Ogawa, Hajime Kato, Koki Irie, So Watanabe, et al
Abstract:

This study identified autoantibodies against PHEX (phosphate-regulating endopeptidase Xlinked) in patients with unexplained acquired fibroblast growth factor 23 (FGF23)-related hypophosphatemic rickets osteomalacia (FGF23rHR). Among 13 patients with suspected tumor-induced osteomalacia but no detectable tumors, 5 (38%) tested positive for PHEX autoantibodies. The findings suggest a novel autoimmune mechanism for osteomalacia, potentially reducing unnecessary tumor-detection procedures and enabling targeted therapies like burosumab or immunomodulatory treatments.

Keywords:
Osteomalacia autoantibodies PHEX FGF23 hypophosphatemia autoimmune disease tumor-induced osteomalacia
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