Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/27524
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dc.contributor.authorWarren, Annabelle M-
dc.contributor.authorEbeling, Peter R-
dc.contributor.authorGrill, Vivian-
dc.contributor.authorSeeman, Ego-
dc.contributor.authorSztal-Mazer, Shoshana-
dc.date2021-09-01-
dc.date.accessioned2021-09-20T05:56:25Z-
dc.date.available2021-09-20T05:56:25Z-
dc.date.issued2021-09-01-
dc.identifier.citationEndocrinology, Diabetes & Metabolism Case Reports 2021; online first: 1 Septemberen
dc.identifier.issn2052-0573
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/27524-
dc.description.abstractHypophosphatasia (HPP) is a rare and under-recognised genetic defect in bone mineralisation. Patients presenting with fragility fractures may be mistakenly diagnosed as having osteoporosis and prescribed antiresorptive therapy, a treatment which may increase fracture risk. Adult-onset HPPhypophosphatasia was identified in a 40-year-old woman who presented with bilateral atypical femoral fractures after 4 years of denosumab therapy. A low serum alkaline phosphatase (ALP) and increased serum vitamin B6 level signalled the diagnosis, which was later confirmed by identification of two recessive mutations of the ALPL gene. The patient was treated with teriparatide given the unavailability of ALP enzyme-replacement therapy (asfotase alfa). Fracture healing occurred, but impaired mobility persisted. HPP predisposes to atypical femoral fracture (AFF) during antiresorptive therapy; hence, bisphosphonates and denosumab are contraindicated in this condition. Screening patients with fracture or 'osteoporosis' to identify a low ALP level is recommended. Hypophosphatasia (HPP) is a rare and under-recognised cause of bone fragility produced by impaired matrix mineralisation that can be misdiagnosed as a fragility fracture due to age-related bone loss. Antiresorptive therapy is contraindicated in HPP. Low serum alkaline phosphatase (ALP) provides a clue to the diagnosis. Elevated serum vitamin B6 (an ALP substrate) is indicative of HPP, while identification of a mutation in the ALPL gene is confirmatory. Enzyme therapy with recombinant ALP (asfotase alfa) is currently prohibitively costly. Treatment with anabolic bone agents such as teriparatide has been reported, but whether normally mineralized bone is formed requires further study.en
dc.language.isoeng
dc.titleBilateral atypical femoral fractures during denosumab therapy in a patient with adult-onset hypophosphatasia.en
dc.typeJournal Articleen
dc.identifier.journaltitleEndocrinology, Diabetes & Metabolism Case Reportsen
dc.identifier.affiliationWomen's Health Research Program, School of Public Health and Preventative Medicine, Monash University, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Endocrinology, Monash Health, Clayton, Victoria, Australiaen
dc.identifier.affiliationDepartment of Endocrinology, Western Health, St Alban's, Victoria, Australiaen
dc.identifier.affiliationDepartment of Endocrinology, The Alfred Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationEndocrinologyen
dc.identifier.affiliationDepartment of Medicine, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Medicine, School of Clinical Sciences, Monash University, Clayton, Victoria, Australiaen
dc.identifier.doi10.1530/EDM-21-0096en
dc.type.contentTexten
dc.identifier.pubmedid34515659
local.name.researcherSeeman, Ego
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
crisitem.author.deptEndocrinology-
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