{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T06:56:14Z","timestamp":1768200974363,"version":"3.49.0"},"reference-count":12,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,8,4]]},"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:p>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 B<jats:sub>6<\/jats:sub>. Subsequently, genetic testing confirmed the diagnosis of adult-onset HPP caused by a heterozygous mutation c.407G&gt;A in the ALPL gene. Asfotase alfa was started; however, the patient developed an allergic reaction leading to the discontinuation of the drug.<\/jats:p>","DOI":"10.1136\/bcr-2020-234764","type":"journal-article","created":{"date-parts":[[2020,9,10]],"date-time":"2020-09-10T03:37:46Z","timestamp":1599709066000},"page":"e234764","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Adult hypophosphatasia manifests in a marathon runner"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2687-0568","authenticated-orcid":false,"given":"Nada","family":"Fanous","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Diabetes and Metabolism, University of Florida, Gainesville, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Barb","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Metabolism, University of Florida, Gainesville, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,9,9]]},"reference":[{"key":"2025082800035788000_13.9.e234764.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.02.011"},{"key":"2025082800035788000_13.9.e234764.2","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1002\/jbmr.3226","article-title":"Hypophosphatasia in adults: clinical assessment and treatment considerations","volume":"32","author":"Shapiro","year":"2017","journal-title":"J Bone Miner Res"},{"key":"2025082800035788000_13.9.e234764.3","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1002\/ajmg.a.37991","article-title":"Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of hypophosphatasia","volume":"173","author":"Tenorio","year":"2017","journal-title":"Am J Med Genet A"},{"key":"2025082800035788000_13.9.e234764.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1106173"},{"key":"2025082800035788000_13.9.e234764.5","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.4158\/EP-2018-0194","article-title":"Hypophosphatasia: clinical assessment and management in the adult PATIENT-A narrative review","volume":"24","author":"Vinan-Vega","year":"2018","journal-title":"Endocr Pract"},{"key":"2025082800035788000_13.9.e234764.6","doi-asserted-by":"crossref","first-page":"676","DOI":"10.4158\/EP.12.6.676","article-title":"Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood","volume":"12","author":"Khandwala","year":"2006","journal-title":"Endocr Pract"},{"key":"2025082800035788000_13.9.e234764.7","unstructured":"FDA Approves Strensiq\u2122 (asfotase alfa) for Treatment of Patients with Perinatal-, Infantile- and Juvenile-Onset Hypophosphatasia (HPP) [Internet]. FDA Approves Strensiq\u2122 (asfotase alfa) for Treatment of Patients with Perinatal-, Infantile- and Juvenile-Onset Hypophosphatasia (HPP) | Alexion Pharmaceuticals, Inc. Available: https:\/\/news.alexionpharma.com\/press-release\/product-news\/fda-approves-strensiq-asfotase-alfa-treatment-patients-perinatal-infantil [Accessed cited 2019Aug24]."},{"key":"2025082800035788000_13.9.e234764.8","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2017.07.010","article-title":"Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa","volume":"122","author":"Kishnani","year":"2017","journal-title":"Mol Genet Metab"},{"key":"2025082800035788000_13.9.e234764.9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1902"},{"key":"2025082800035788000_13.9.e234764.10","doi-asserted-by":"crossref","first-page":"941","DOI":"10.4158\/EP15890.OR","article-title":"Adult hypophosphatasia treated with teriparatide: report of 2 patients and review of the literature","volume":"22","author":"Camacho","year":"2016","journal-title":"Endocr Pract"},{"key":"2025082800035788000_13.9.e234764.11","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1172\/JCI83731","article-title":"Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia","volume":"127","author":"Seefried","year":"2017","journal-title":"J Clin Invest"},{"key":"2025082800035788000_13.9.e234764.12","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.bone.2018.12.011","article-title":"Five-Year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia","volume":"121","author":"Kishnani","year":"2019","journal-title":"Bone"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-234764","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:04:07Z","timestamp":1756364647000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-234764"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":12,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2020,9,9]]},"published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1136\/bcr-2020-234764"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-234764","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9]]}}}