Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry
Entity
UAM. Departamento de PediatríaPublisher
Frontiers MediaDate
2023-03-27Citation
10.3389/fendo.2023.1138599
Frontiers in Endocrinology 24 (2023): 1-9
ISSN
1664-2392 (online)DOI
10.3389/fendo.2023.1138599Editor's Version
https://doi.org/10.3389/fendo.2023.1138599Subjects
6MWT; rare diseases; alkaline phosphatase; SF-36; health-related quality of life; mobility; fracture; pseudofracture; MedicinaRights
© 2023 Dahir, Kishnani, Martos-Moreno, Linglart, Petryk, Rockman-Greenberg, Martel, Ozono, Högler and SeefriedAbstract
Hypophosphatasia (HPP) manifests in adults as fractures/pseudofractures, pain, muscle weakness, and other functional impairments. Better phenotypic disease characterization is needed to help recognize disability and treat patients with HPP. Baseline/pretreatment demographic, clinical characteristic, and patient-reported disability/health-related quality-of-life (HRQoL) data from adults (≥18 y) in the Global HPP Registry (NCT02306720) were stratified by presence of overt skeletal manifestations (skeletal group) versus muscular/pain manifestations without skeletal manifestations (muscular/pain group) and summarized descriptively. Disability was measured using the Health Assessment Questionnaire–Disability Index (HAQ-DI), and HRQoL using the 36-item Short Form Health Survey (SF-36v2). Of 468 adults, 300 were classified into the skeletal group and 73 into the muscular/pain group. The skeletal group had a higher median age at baseline (50.1 vs 44.4 y; P=0.047) but a lower median age at first HPP manifestation (12.3 vs 22.1 y; P=0.0473), with more signs and symptoms (median, 4 vs 3; P<0.0001) and involved body systems (median, 3 vs 2; P<0.0001) than the muscular/pain group. More patients in the skeletal group required any use of mobility aids (22.6% vs 3.5%, respectively; P=0.001). Six-Minute Walk test distances walked were similar between groups. SF-36v2 and HAQ-DI scores were similar between groups for physical component summary (n=238; mean [SD]: 40.2 [11.0] vs 43.6 [11.2]; P=0.056), mental component summary (n=238; mean [SD]: 43.6 [11.3] vs 43.8 [11.8]; P=0.902), and HAQ-DI (n=239; median [minimum, maximum]: 0.4 [0.0, 2.7] vs 0.3 [0.0, 2.1]; P=0.22). Adults with HPP experience similar QoL impairment regardless of skeletal involvement
Files in this item
Google Scholar:Dahir, Kathryn M.
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Kishnani, Priya S.
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Martos Moreno, Gabriel Ángel
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Linglart, Agnès
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Petryk, Anna
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Rockman-Greenberg, Cheryl
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Martel, Samantha E.
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Ozono, Keiichi
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Högler, Wolfgang
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Seefried, Lothar
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