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Case Reports
. 2025 Mar 20;17(3):e80894.
doi: 10.7759/cureus.80894. eCollection 2025 Mar.

Hypophosphatasia: Clinical Clues and Management Considerations

Jason M Corless  1   2 , Alan J Bartholomew  3 , Joseph K Kluesner  4
Affiliations
Case Reports

Hypophosphatasia: Clinical Clues and Management Considerations

Jason M Corless et al. Cureus. .

Abstract

This case report identifies typical manifestations of a patient with hypophosphatasia, a rare genetic condition in which mutations in tissue-non-specific alkaline phosphatase (TNSALP) enzymes cause low levels of alkaline phosphatase and defective bone mineralization. It explores common diagnostic clues from the history and laboratory evaluation, which can help clinicians identify the disorder. This case introduces a 49-year-old patient with a long history of fractures and dental abnormalities who was referred to endocrinology for evaluation of osteopenia. Further review of her laboratory data was noteworthy for a low level of alkaline phosphatase. Additionally, a low vitamin B6 level was measured, and genetic testing was ultimately diagnostic for hypophosphatasia. The patient was started on the anabolic agent teriparatide but was lost to subsequent follow-up. This case discusses additional management considerations, which are currently limited but continue to evolve, and cautions against bisphosphonate use in the setting of hypophosphatasia.

Keywords: alkaline phosphatase (alp); bone mineralization; hypophosphatasia; hypophosphatemic osteomalacia; rare genetic diseases.

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Conflict of interest statement

Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. X-ray images of the fifth metatarsal fracture
(A) Anteroposterior view; (B) oblique view
See this image and copyright information in PMC

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