Abstract
Background
Patients with inherited bone marrow failure syndromes (IBMFS) may have several risk factors for low bone mineral density (BMD). We aimed to evaluate the prevalence of low BMD in IBMFS and determine the associated risk factors.
Methods
Patients with IBMFS with at least one dual-energy X-ray absorptiometry (DXA) scan were evaluated. Diagnosis of each IBMFS, Fanconi anemia (FA), dyskeratosis congenita, Diamond–Blackfan anemia, and Shwachman–Diamond syndrome was confirmed by syndrome-specific tests. Data were gathered on age, height, and clinical history. DXA scans were completed at the lumbar spine, femoral neck, and forearm. BMD was adjusted for height (HAZ) in children (age ≤20 years). Low BMD was defined as a BMD Z-score and HAZ ≤−2 in adults and children, respectively, in addition to patients currently on bisphosphonate therapy.
Results
Nine of thirty-five adults (26%) and eleven of forty children (27%) had low BMD. Adults with FA had significantly lower BMD Z-scores than those with other diagnoses; however, HAZ did not vary significantly in children by diagnosis. Risk factors included hypogonadism, iron overload, and glucocorticoid use.
Conclusions
Adults and children with IBMFS have high prevalence of low BMD. Prompt recognition of risk factors and management are essential to optimize bone health.
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Acknowledgements
We thank Lisa Leathwood, RN, Maureen Risch, RN, and Ann Carr, MS, CGC, and other members of the Westat Inherited Bone Marrow Failure Syndromes team for their extensive assistance. We are grateful to the patients and their families for their valuable contributions.
Statement of financial support
This research was supported in part by the Intramural Research Programs of the National Cancer Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, of the National Institutes of Health, and by contract HHSN261201100018C with Westat.
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Shankar, R., Giri, N., Lodish, M. et al. Bone mineral density in patients with inherited bone marrow failure syndromes. Pediatr Res 82, 458–464 (2017). https://doi.org/10.1038/pr.2017.117
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DOI: https://doi.org/10.1038/pr.2017.117
