Development of Spinal Enthesopathies in Adults With X-linked Hypophosphatemia

Abstract

Context: Musculoskeletal complications are the main manifestations in adults with X-linked hypophosphatemia (XLH). Enthesopathy significantly impairs quality of life. Objective: To identify the risk factors associated with the development and progression of spinal enthesopathies in adults with XLH. Design and setting: We conducted a retrospective study in the French Reference Center for Rare Diseases of the Calcium and Phosphate Metabolism. Patients: Adults XLH patients with 2 EOS® imaging performed at least 2 years apart at the same center between June 2011 and March 2022. The progression of enthesopathies was defined as a new enthesopathy at least 1 intervertebral level in patients with or without presence of enthesopathy at baseline. Main outcome measures: Demographic, treatment, PHEX mutation with the progression of enthesopathies. Results: Fifty-one patients (66.7% of women, mean age 42.1 ± 13.4 years) underwent 2 EOS imaging with an average interval of 5.7 (± 2.31) years. Progression of spinal enthesopathies was observed in 27 (52.9%) patients. In univariate analysis, patients with a progression of spinal enthesopathies were significantly older (P