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Prevalence of low serum alkaline phosphatase and hypophosphatasia in adult patients with atypical femur fractures

First online date2022-02-28
Abstract

Hypophosphatasia (HPP) is a rare genetic disorder characterized by low serum alkaline phosphatase (ALP), its manifestations may include atypical femoral fractures (AFF). However, the prevalence of low serum ALP and HPP in patients with AFF remains unknown. We retrospectively analyzed ALP levels and clinical manifestations compatible with HPP in 72 adult patients with confirmed AFF by chart review. ALP values were compared with those of a control group of patients with prior proximal femoral fracture during antiresorptive treatment (n = 20). Among the AFF patients, 18 (25%) had at least one serum ALP value ≤ 40 IU/L, although in all but one case, at least one ALP value > 40 IU/L was also detected at another time point. Most low ALP values were associated with antiresorptive treatment (P = 0.049) and lowest levels of ALP did not differ between the AFF and the control groups (P = 0.129). However, low ALP values among AFF patients were associated with a higher rate of bilateral AFF (50% vs 22%, P = 0.025), metatarsal fracture (33% vs 7%, P = 0.006), and with trends for more frequent use of glucocorticoid (22% vs 8%, P = 0.089) and proton pump inhibitor (61% vs 44%, P = 0.220). In one AFF patient with low ALP and clinical suspicion of HPP, a rare pathogenic heterozygous variant of the ALPL gene was identified. In conclusion, low ALP values are common among subjects with AFF and mainly related to concomitant antiresorptive medication. Hence, low serum ALP has low specificity for HPP among AFF patients.

Keywords
  • Alkaline Phosphatase
  • Atypical Femur Fracture
  • Bisphosphonates
  • Hypophosphatasia
  • Osteoporosis
  • Rare bone disease
Citation (ISO format)
TSIANTOULI, Eleni et al. Prevalence of low serum alkaline phosphatase and hypophosphatasia in adult patients with atypical femur fractures. In: Calcified tissue international, 2022. doi: 10.1007/s00223-022-00949-1
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Article (Published version)
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ISSN of the journal0171-967X
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Creation17/03/2022 14:02:00
First validation17/03/2022 14:02:00
Update time16/03/2023 06:32:47
Status update16/03/2023 06:32:46
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