Bone Mineral Density in Patients with Inherited Bone Marrow Failure Syndromes

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 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 or HAZ ≤−2 in adults and children, respectively, in addition to patients currently on bisphosphonate therapy. RESULTS: Nine of 35 adults (26%) and 11 of 40 children (27%) had low BMD. Adults with FA had significantly lower BMD Z-scores than those with other diagnoses but 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.