Comparison of Bone Mineral Density by Dual-Energy X-Ray Absorptiometry and Bone Strength by Speed-of-Sound Ultrasonography in Adults With Gaucher Disease

Patients with the lysosomal disorder Gaucher disease (GD) are at risk of osteoporosis and/or avascular necrosis, but to date, no adequate biomarkers are available to ascertain individual predilections. Bone mineral density by dual-energy X-ray absorptiometry (DXA) has traditionally been used to monitor trends. With the availability of a speed-of-sound (SOS) ultrasonography to assess bone strength/elasticity, we aimed to ascertain whether these modalities are complimentary or comparable so SOS, with no radiation risk, might be used more routinely as a potential biomarker. A prospective comparative study in adult GD patients undergoing routine follow-up of bone mineral density T- and Z-scores at forearm (FA), femoral neck, and lumbar spine, and SOS Z-scores at FA was initiated. Interpretation was by qualitative categorization of Z-scores. The kappa measure of agreement beyond chance was calculated between pairs of measurements and the McNemar test was then applied. This noninterventional trial (ClinicalTrials.gov Identifier: NCT02067247) was approved by the institutional ethics committee. There were 89 patients (ages 21-78 years, 61% female, 62% common Ashkenazi genotype, 18% splenectomized, and 18% with avascular necrosis/fractures). When comparing Z-scores at FA by DXA and SOS, only 39.3% correlated, while the remaining results were in disagreement; no trend was noted. Similarly, when comparing Z-scores at the femoral neck by DXA with those at FA by SOS, 44.9% of the results were in agreement; no trend was noted; and Z-scores at the lumbar spine by DXA with FA by SOS, 46% were in agreement and no trend was noted. DXA at the 3 sites did not track in the same direction or the same magnitude of difference with SOS at FA in adult patients with GD. Due to the fundamental differences between the 2 measurements and their clinical correlates, plus the lack of long-term follow-up to assess outcome, the potential added value of the measurements at the FA by SOS in patients with GD awaits further studies.