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.
| Autor: | Dahir KM; Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, United States., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States., Martos-Moreno GÁ; Departments of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red Fisiopatología Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain., Linglart A; Department of Endocrinology and Childhood Diabetes, Paris Saclay University, AP-HP and INSERM, Paris, France., Petryk A; Department of Global Medical Affairs, Alexion, AstraZeneca Rare Disease, Boston, MA, United States., Rockman-Greenberg C; Department of Pediatrics & Child Health and Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, MB, Canada., Martel SE; Department of Epidemiology, Alexion, AstraZeneca Rare Disease, Boston, MA, United States., Ozono K; Department of Pediatrics, Osaka University, Suita, Osaka, Japan., Högler W; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Seefried L; Orthopedic Department, University of Würzburg, Würzburg, Germany. |
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| Jazyk: | angličtina |
| Zdroj: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Mar 27; Vol. 14, pp. 1138599. Date of Electronic Publication: 2023 Mar 27 (Print Publication: 2023). |
| DOI: | 10.3389/fendo.2023.1138599 |
| Abstrakt: | Introduction: 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. Methods: 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). Results: 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). Conclusion: Adults with HPP experience similar QoL impairment regardless of skeletal involvement. Registration: https://clinicaltrials.gov/ct2/show/NCT02306720 and https://www.encepp.eu/encepp/viewResource.htm?id=47907, identifier NCT02306720; EUPAS13514. Competing Interests: Authors AP and SM are employed by Alexion, AstraZeneca Rare Disease. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The authors declare that this study received funding from Alexion, AstraZeneca Rare Disease. The funder had the following involvement in the study: conception and design of the Registry, collection of data, and statistical analyses, as described in the Author Contributions section. (Copyright © 2023 Dahir, Kishnani, Martos-Moreno, Linglart, Petryk, Rockman-Greenberg, Martel, Ozono, Högler and Seefried.) |
| Databáze: | MEDLINE |
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