Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia

Arch Pediatr. 2021 Oct; 28(7):606-611. doi: 10.1016/j.arcped.2021.09.004.

PMID: 34625379

Axelle Salcion, Julia Herrou, Karine Briot

Highlights: Regarding the incidence and consequences of musculoskeletal features in X-linked hypophosphatemia (XLH), all patients should be assessed by a bone disease specialist and, if necessary, managed by a multidisciplinary team.

Abstract

Background: PHEX mutations cause X-linked hypophosphatemia (XLH), an uncommon hereditary phosphate disorder. Adults, unlike children, have a limited understanding of the disease's manifestations. The disease's prominent hallmark in young people is musculoskeletal symptoms, which are connected with a significant burden on the patients' lives. Fractures and pseudofractures, pain, joint stiffness, osteoarthritis, enthesopathies, and muscular weakness are some of the conditions that can lead to a lower quality of life. In symptomatic patients, conventional treatment with phosphate supplements and vitamin D analogs is recommended. Appropriate rehabilitation is also essential for disease management, as it improves physical function and reduces pain, stiffness, and fatigue.

Conclusion: All patients with XLH should be evaluated by a bone disease specialist and, if necessary, managed by a multidisciplinary team because to the incidence and consequences of musculoskeletal characteristics.

Keywords: PHEX, Enthesopathies, Hypophosphatemic rickets, Osteoarthritis, Rheumatologic features, X-linked hypophosphatemia