OP2026 Poster Presentations Original Research (32 abstracts)
Bone mineral density in adults with hypophosphatasia with or without history of fractures
Lothar Seefried 1 , Priya S. Kishnani 2 , Kathryn M. Dahir 3 , Cheryl Rockman-Greenberg 4 , Keiichi Ozono 5 , Gabriel A. Martos Moreno 6 , Wolfgang Hgler 7 , Agns Linglart 8 , Anna Petryk 9 , Shona Fang 9 & Peter R. Ebeling 10
1University of Wrzburg, Wrzburg, Germany;2Duke University Medical Center, Durham, USA;3Vanderbilt University Medical Center, Nashville, USA;4University of Manitoba, Winnipeg, Canada;5ISEIKAI International General Hospital, Osaka, Japan;6Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autnoma de Madrid, CIBERobn, ISCIII, Madrid, Spain;7Johannes Kepler University Linz, Linz, Austria;8Paris-Saclay University, AP-HP and INSERM, Paris, France;9Alexion, AstraZeneca Rare Disease, Boston, USA;10School of Clinical Sciences, Monash University, Clayton, Australia
Background: The objective of the analysis was to characterize bone mineral density (BMD) T-scores in adults with hypophosphatasia (HPP) with and without history of fracture (HoF).
Methods: Fractures occurring before asfotase alfa treatment (or at any time in untreated patients) were analyzed in younger (aged 18≤50 y) and older (aged 50 y) adults from the Global HPP Registry (data cut: June 2023). Dual X-ray absorptiometry (DXA) results within 12 months of fracture (or most recent DXA for patients without HoF) were evaluated. Sites analyzed included lumbar spine, hip neck, and total hip. T-scores 2.5 were interpreted as osteoporosis. Median BMD T-scores are presented.
Results: The study included 278 younger adults (106 with HoF) and 249 older adults (142 with HoF). In younger adults, 17 with HoF and 86 without HoF had an evaluable DXA. Median T-scores were within normal range in younger adults, although they were lower for those with HoF vs those without HoF at the lumbar spine (1.2 vs 0), hip neck (1.4 vs 0.4), and total hip (1.3 vs 0.3). No younger adults without HoF had T-scores ≤2.5. Median age at DXA was 33.9 y among those with HoF and 37.9 y among those without HoF. Among older adults, 16 with HoF and 56 without HoF had an evaluable DXA. Median T-scores were within normal range among older adults and were similar between those with HoF vs those without HoF at the lumbar spine (0.8 vs 0.8), hip neck (1.5 vs 1.4), and total hip (1.6 vs 1.1). The percent of patients with T-scores ≤2.5 was similar between those with vs without HoF. Median age at DXA was similar among those with vs without HoF (60.6 y vs 60.8 y). Metatarsal/femoral fractures characteristic of HPP were present in 10/17 (59%) younger adults and 9/16 (56%) older adults; fractures characteristic of osteoporosis were present in 5/17 (29%) younger adults and 7/16 (44%) older adults.
Conclusion: Median BMD T-scores were within a normal range among adults regardless of fracture history. Some patients may have concomitant osteoporosis in addition to the underlying HPP-related osteomalacia.
Volume 8
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