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BMC Musculoskeletal Disorders

, 17:332

Clinical rheumatology and osteoporosis


BackgroundCase reports have linked adult hypophosphatasia as a possible cause of atypical femur fractures AFF associated with bisphosphonate use. Adult hypophosphatasia is an asymptomatic genetic condition which results in low alkaline phosphatase and elevated pyridoxal phosphate. We conducted a case–control study to assess the role of hypophosphatasia and atypical femur fracture.

MethodsWe recruited 13 control patients who took long term bisphosphonates without complication and 10 patients who sustained atypical femur fractures mean bisphosphonate use, 9 years both cohorts. Patients underwent clinical exam and measurement of alkaline phosphatase and pyridoxal phosphate PLP levels. In addition, DNA was extracted and the ALPL gene was sequenced in both cohorts.

ResultsLow alkaline phosphatase levels <55 U-L were seen in 5-10 AFF patients and 5-13 control patients. Two control patients demonstrated low alkaline phosphatase levels and elevated PLP. The alkaline phosphatase ALPL gene exons and intron splice sites were sequenced in the atypical femur fracture and control cohorts and no coding mutations were identified in any subjects. Atypical femur fracture patients demonstrated more varus hip alignment p < 0.048 with no significant difference in mechanical axis.

ConclusionsWe found no evidence of hypophosphatasia as a risk factor for atypical femur fractures. Laboratory findings of mildly low alkaline phosphatase activity were equally common in atypical and control cohorts and may be due to long term bisphosphonate use.

Trial registrationClinicaltrials.gov number NCT01360099. Prospectively registered May 20, 2011. First patient enrolled June 14, 2011.

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Autor: Timothy Bhattacharyya - Smita Jha - Hongying Wang - Daniel L. Kastner - Elaine F. Remmers

Fuente: https://link.springer.com/

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