AI Article Synopsis
- - The study explores the prevalence and risk factors of enthesopathies in adults with X-linked hypophosphatemia (XLH), highlighting that these conditions contribute to a poor quality of life.
- - A total of 114 XLH patients were included, revealing that 67% had enthesopathies, with older age and severe dental issues being significantly associated with their occurrence.
- - No direct correlation was found between specific PHEX mutations and the presence of enthesopathies, indicating that other factors, such as age and dental health, play a more critical role.
Article Abstract
Context: Enthesopathies are the determinant of a poor quality of life in adults with X-linked hypophosphatemia (XLH).
Objective: To describe the prevalence of patients with enthesopathies and to identify the risk factors of having enthesopathies.
Methods: Retrospective study in the French Reference Center for Rare Diseases of the Calcium and Phosphate Metabolism between June 2011 and December 2020. Adult XLH patients with full body X-rays performed using the EOS® low-dose radiation system and clinical data collected from medical records. The main outcome measures were demographics, PHEX mutation, conventional treatment, and dental disease with the presence of enthesopathies.
Results: Of the 114 patients included (68% women, mean age 42.2 ± 14.3 years), PHEX mutation was found in 105 patients (94.6%), 86 (77.5%) had been treated during childhood. Enthesopathies (spine and/or pelvis) were present in 67% of the patients (n = 76). Patients with enthesopathies were significantly older (P = .001) and more frequently reported dental disease collected from medical records (P = .03). There was no correlation between the PHEX mutations and the presence of enthesopathies. Sixty-two patients had a radiographic dental examination in a reference center. Severe dental disease (number of missing teeth, number of teeth endodontically treated, alveolar bone loss, and proportion of patients with 5 abscesses or more) was significantly higher in patients with enthesopathies.
Conclusion: Adult XLH patients have a high prevalence of enthesopathies in symptomatic adults patients with XLH seen in a reference center. Age and severe dental disease were significantly associated with the presence of enthesopathies.
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