title: Comparison of Bone Mineral Density by Dual-Energy X-Ray Absorptiometry and Bone Strength by Speed-of-Sound Ultrasonography in Adults With Gaucher Disease.
abstract: 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.
authors.affiliation: Gaucher Clinic and Department of Orthopedic Surgery, Shaare Zedek Medical Center, Affiliated with the Hadassah-Hebrew University Medical School, Jerusalem, Israel.
authors.forename: Eytan
authors.initials: E
authors.lastname: Baskin
authors.affiliation: Gaucher Clinic and Department of Orthopedic Surgery, Shaare Zedek Medical Center, Affiliated with the Hadassah-Hebrew University Medical School, Jerusalem, Israel.
authors.forename: Tama
authors.initials: T
authors.lastname: Dinur
authors.affiliation: Gaucher Clinic and Department of Orthopedic Surgery, Shaare Zedek Medical Center, Affiliated with the Hadassah-Hebrew University Medical School, Jerusalem, Israel.
authors.forename: Ehud
authors.initials: E
authors.lastname: Lebel
authors.affiliation: Gaucher Clinic and Department of Orthopedic Surgery, Shaare Zedek Medical Center, Affiliated with the Hadassah-Hebrew University Medical School, Jerusalem, Israel.
authors.forename: Maayan
authors.initials: M
authors.lastname: Tiomkin
authors.affiliation: Gaucher Clinic and Department of Orthopedic Surgery, Shaare Zedek Medical Center, Affiliated with the Hadassah-Hebrew University Medical School, Jerusalem, Israel. Electronic address: elstein@szmc.org.il.
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.affiliation: Gaucher Clinic and Department of Orthopedic Surgery, Shaare Zedek Medical Center, Affiliated with the Hadassah-Hebrew University Medical School, Jerusalem, Israel.
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D000368:Aged; D001696:Biomechanical Phenomena; D015519:Bone Density / Q000502:physiology*; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000502:physiology*; D005260:Female; D005776:Gaucher Disease / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010020:Osteonecrosis / Q000000981:diagnostic imaging; D010024:Osteoporosis / Q000000981:diagnostic imaging; D011446:Prospective Studies; D014463:Ultrasonography; D055815:Young Adult
keywords: Avascular necrosis; Gaucher disease; bone mineral density; dual-energy X-ray absorptiometry; speed-of-sound ultrasonography