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Case Reports
. 2020 Sep 9;13(9):e234764.
doi: 10.1136/bcr-2020-234764.

Adult hypophosphatasia manifests in a marathon runner

Nada Fanous  1 , Diana Barb  2
Affiliations
Case Reports

Adult hypophosphatasia manifests in a marathon runner

Nada Fanous et al. BMJ Case Rep. .

Abstract

A 49-year-old woman, previously healthy, presented with recurrent fractures provoked by minimal trauma. She had sustained seven fractures over the previous 2 years. While she was an avid runner, her injuries were determined to be out of proportion to the degree of trauma. Initial evaluation, exploring the more common causes such as low bone density and abnormal vitamin D metabolism, was unremarkable. On repeat of the some of the tests, a low alkaline phosphatase (AP) was noted, which raised suspicion for hypophosphatasia (HPP), a rare cause of recurrent fractures. Subsequent workup revealed a low bone-specific AP and elevated vitamin B6 Subsequently, genetic testing confirmed the diagnosis of adult-onset HPP caused by a heterozygous mutation c.407G>A in the ALPL gene. Asfotase alfa was started; however, the patient developed an allergic reaction leading to the discontinuation of the drug.

Keywords: calcium and bone; sports and exercise medicine.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Normal X-rays of the left foot: anteroposterior (AP) view (A), oblique view (B).
Figure 2
Figure 2
T1-weighted axial images of the left foot MRI showing a non-displaced stress fracture in the proximal first metatarsal.
See this image and copyright information in PMC

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