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. 2022 Jul;33(7):1485-1491.
doi: 10.1007/s00198-022-06318-w. Epub 2022 Feb 5.

Physical function and physical activity in adults with X-linked hypophosphatemia

G Orlando  1 , J Bubbear  2 , S Clarke  3 , R Keen  2 , M Roy  3 , A Anilkumar  3 , M Schini  4 , J S Walsh  4 , M K Javaid  5 , A Ireland  6
Affiliations

Physical function and physical activity in adults with X-linked hypophosphatemia

G Orlando et al. Osteoporos Int. 2022 Jul.

Abstract

We described physical function and activity in UK adults with X-linked hypophosphatemia (XLH). Our data indicate that low physical activity and impaired mobility are common in adults with XLH. Deficits in lower limbs muscle power and functional capacity contribute to the loss of physical function in adults with XLH.

Introduction: There is a dearth of literature on physical function and physical activity in adults with X-linked hypophosphatemia (XLH). We described muscle strength and power, functional capacity, mobility and physical activity level and explored the relationships among these variables in adults with XLH.

Methods: Participants were recruited as part of a UK-based prospective cohort study, the RUDY Study. They underwent a clinical visit and physical examination, including assessment of handgrip strength, jump power (mechanography), six-minute walk test (6MWT) and short physical performance battery (SPPB), and completed the International Physical Activity Questionnaire (IPAQ). Performance data were analysed using parametric and non-parametric tests, whereas correlations were assessed by univariate analysis.

Results: Twenty-six adults with XLH (50% males) with a mean age of 44 ± 16.1 years were recruited. Jump power and 6MWT distances (p < 0.0001) were 54.4% and 38.6% lower respectively in individuals with XLH compared with normative values. These deficits were not associated with age or sex. Handgrip strength values were similar to expected values. Deficits in muscle power were more pronounced than those reported at 6MWT (p < 0.0001). Univariate analysis revealed only a correlation between total physical activity and muscle power (r = 0.545, p = 0.019).

Conclusions: Adults with XLH have a marked deficit in lower limb muscle power and a reduced functional capacity, with a high incidence of impaired mobility and inactivity. In addition to metabolic effects of XLH, low physical activity may contribute to deficits in lower limb power. Further studies are required to develop novel treatment approaches to improve physical function and mobility.

Keywords: Musculoskeletal function; Physical activity and disability; X-linked hypophosphatemia.

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References

    1. Carpenter TO, Imel EA, Holm IA, Jan De Beur SM, Insogna KL (2011) A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res 26:1381–8. https://doi.org/10.1002/jbmr.340 - DOI - PubMed
    1. Pettifor JM (2008) What’s new in hypophosphataemic rickets? Eur J Pediatr 167:493–499. https://doi.org/10.1007/s00431-007-0662-1 - DOI - PubMed - PMC
    1. Seefried L, Smyth M, Keen R, Harvengt P (2021) Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review. Osteoporos Int 32:7–22. https://doi.org/10.1007/s00198-020-05548-0 - DOI - PubMed
    1. Forestier-Zhang L, Watts L, Turner A, Teare H, Kaye J, Barrett J et al (2016) Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia. Orphanet J Rare Dis 11:1–9. https://doi.org/10.1186/s13023-016-0538-4 - DOI
    1. Orlando G, Pinedo-Villanueva R, Reeves ND, Javaid MK, Ireland A (2021) Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study. Osteoporos Int 32:157–164. https://doi.org/10.1007/s00198-020-05537-3 - DOI - PubMed

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