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Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study

Scorcelletti, Matteo and Kara, Serhan and Zange, Jochen and Jordan, Jens and Semler, O. and Schönau, E. and Rittweger, Jörn and Ireland, Alex and Seefried, Lothar (2022) Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study. Osteoporosis International, 33 (7), pp. 1601-1611. Springer. doi: 10.1007/s00198-022-06385-z. ISSN 0937-941X.

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Official URL: https://link.springer.com/article/10.1007/s00198-022-06385-z


Summary: We assessed lower-limb geometry in adults with X-linked hypophosphatemia (XLH) and controls. We found large differences in multiple measures including femoral and tibial torsion, bowing and cross-sectional area and acetabular version and coverage which may contribute to clinical problems such as osteoarthritis, fractures and altered gait common in XLH. Purpose: Individuals with X-linked hypophosphatemia (XLH) are at risk of lower-limb deformities and early onset of osteoarthritis. These two factors may be linked, as altered biomechanics is a risk factor for osteoarthritis. This exploratory evaluation aims at providing clues and concepts for this association to facilitate future larger-scale and longitudinal studies on that aspect. Methods: For this observational study, 13 patients with XLH, aged 18-65 years (6 female), were compared with sex-, age- and weight-matched healthy individuals at a single German research centre. Femoral and hip joint geometry, including femoral and tibial torsion and femoral and tibial shaft bowing, bone cross-sectional area (CSA) and acetabular version and coverage were measured from magnetic resonance imaging (MRI) scans. Results: Total femoral torsion was 29° lower in individuals with XLH than in controls (p < 0.001), mainly resulting from lower intertrochanteric torsion (ITT) (p < 0.001). Femoral lateral and frontal bowing, tibial frontal bowing, mechanical axis, femoral mechanical–anatomical angle, acetabular version and acetabular coverage were all greater and tibial torsion lower in individuals with XLH as compared to controls (all p < 0.05). Greater femoral total and marrow cavity CSA, greater tibial marrow cavity CSA and lower cortical CSA were observed in XLH (all p < 0.05). Discussion: We observed large differences in clinically relevant measures of tibia and particularly femur bone geometry in individuals with XLH compared to controls. These differences may plausibly contribute to clinical manifestations of XLH such as early-onset osteoarthritis, pseudofractures and altered gait and therefore should be considered when planning corrective surgeries.

Item URL in elib:https://elib.dlr.de/189485/
Document Type:Article
Title:Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study
AuthorsInstitution or Email of AuthorsAuthor's ORCID iDORCID Put Code
Scorcelletti, MatteoDepartment of Life Sciences, Research Centre for Musculoskeletal Science & Sports Medicine, Manchester Metropolitan University, Manchester, UKhttps://orcid.org/0000-0003-0186-1008UNSPECIFIED
Zange, JochenUNSPECIFIEDhttps://orcid.org/0000-0003-1822-0952133724767
Jordan, JensUNSPECIFIEDhttps://orcid.org/0000-0003-4518-0706UNSPECIFIED
Semler, O.University of CologneUNSPECIFIEDUNSPECIFIED
Schönau, E.Department of Pediatric and Adolescent Medicine, University of Cologne, Cologne, GermanyUNSPECIFIEDUNSPECIFIED
Rittweger, JörnUNSPECIFIEDhttps://orcid.org/0000-0002-2223-8963UNSPECIFIED
Ireland, AlexUNSPECIFIEDhttps://orcid.org/0000-0003-1094-9183UNSPECIFIED
Seefried, LotharOrthopaedic Department, University of Würzburg, Wurzburg, Germanyhttps://orcid.org/0000-0003-1154-3388UNSPECIFIED
Date:18 April 2022
Journal or Publication Title:Osteoporosis International
Refereed publication:Yes
Open Access:Yes
Gold Open Access:No
In ISI Web of Science:Yes
Page Range:pp. 1601-1611
Keywords:Rare disorders, X-linked hypophosphatemia (XLH),bone geometry , femur
HGF - Research field:Aeronautics, Space and Transport
HGF - Program:Space
HGF - Program Themes:Research under Space Conditions
DLR - Research area:Raumfahrt
DLR - Program:R FR - Research under Space Conditions
DLR - Research theme (Project):R - Bone metabolism and structural adaptation
Location: Köln-Porz
Institutes and Institutions:Institute of Aerospace Medicine > Muscle and Bone Metabolism
Institute of Aerospace Medicine > Leitungsbereich ME
Deposited By: Zange, Dr.rer.nat. Jochen
Deposited On:09 Nov 2022 11:46
Last Modified:27 Jun 2023 15:04

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