Evaluation of bone density and microarchitecture in adult patients with X-linked hypophosphatemic rickets: A pilot longitudinal study.

Autor: Funck-Brentano T; BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France; National Reference Center For Rare Bone Diseases, Lariboisière Hospital, APHP.Nord, Filière OSCAR, F-75475 Paris, France. Electronic address: thomas.funck-brentano@aphp.fr., Vanjak A; BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France; National Reference Center For Rare Bone Diseases, Lariboisière Hospital, APHP.Nord, Filière OSCAR, F-75475 Paris, France. Electronic address: arnaud.vanjak@aphp.fr., Ostertag A; BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France., Nethander M; Center for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy, Gothenburg University, Sweden., Fernandez S; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France., Collet C; Imagine Institut, Necker Hospital, Université Paris Cité, F-75475 Paris, France., Hans D; Center of Bone Diseases, Bone & Joint Department, Lausanne University Hospital, Lausanne, Switzerland., van Rietbergen B; Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, the Netherlands., Cohen-Solal M; BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France; National Reference Center For Rare Bone Diseases, Lariboisière Hospital, APHP.Nord, Filière OSCAR, F-75475 Paris, France.
Jazyk: angličtina
Zdroj: Bone [Bone] 2024 Oct; Vol. 187, pp. 117179. Date of Electronic Publication: 2024 Jul 01.
DOI: 10.1016/j.bone.2024.117179
Abstrakt: X-linked Hypophosphatemia (XLH) is the most common type of inherited rickets. Although the clinical features are well characterized, bone structure, mineralization, and biomechanical properties are poorly known. Our aim was to analyze bone properties in the appendicular and axial skeleton of adults with XLH. In this observational case-control study, each affected patient (N = 14; 9 females; age 50 ± 15 years) was matched by sex, age and body mass index to a minimum of two healthy controls (N = 34). Dual-energy X-ray Absorptiometry (DXA) analyses revealed that areal bone mineral density (aBMD) was higher in XLH patients at the lumbar spine (Z score mean difference = +2.47 SD, P value = 1.4 × 10 -3 ). Trabecular Bone Score was also higher at the lumbar spine (P value = 1.0 × 10 -4 ). High Resolution peripheral Quantitative Computed Tomography (HRpQCT) demonstrated that bone cross-sectional area was larger at the distal radius (P value = 6 × 10 -3 ). Total and trabecular volumetric BMD were lower at both sites. Trabecular bone volume fraction was also lower with fewer trabecular numbers at both sites. However, bone strength evaluated by micro-finite element analyzes revealed unaffected bone stiffness and maximum failure load. Evaluation of bone mineralization with aBMD by DXA at the distal radius correlated with vBMD by HRpQCT measurements at both sites. PTH levels were inversely correlated with trabecular vBMD and BV/TV at the tibia. We then followed a subset of nine patients (median follow-up of 4 years) and reassessed HRpQCT. At the tibia, we observed a greater decrease than expected from an age and sex standardized normal population in total and cortical vBMD as well as a trabecularization of the cortical compartment. In conclusion, in adult patients with XLH, bone mineral density is high at the axial skeleton but low at the appendicular skeleton. With time, microarchitectural alterations worsen. We propose that noninvasive evaluation methods of bone mineralization such as DXA including the radius should be part of the management of XLH patients. Larger studies are needed to evaluate the clinical significance of BMD changes in XLH patients under conventional or targeted therapies.
Competing Interests: Declaration of competing interest TFB and MCS disclose their participation in a sponsored symposium by Kyowa Kirin. MCS received a research grant by Kyowa Kirin.
(Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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