成人生长激素缺乏症患者肌肉症状和/或疼痛对疾病特征、残疾和生活质量的影响：来自全球 HPP 登记处的横断面分析。
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.
机构信息
Division of Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, United States.
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
出版信息
Front Endocrinol (Lausanne). 2023 Mar 27;14:1138599. doi: 10.3389/fendo.2023.1138599. eCollection 2023.
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; =0.047) but a lower median age at first HPP manifestation (12.3 vs 22.1 y; =0.0473), with more signs and symptoms (median, 4 vs 3; <0.0001) and involved body systems (median, 3 vs 2; <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; =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]; =0.056), mental component summary (n=238; mean [SD]: 43.6 [11.3] vs 43.8 [11.8]; =0.902), and HAQ-DI (n=239; median [minimum, maximum]: 0.4 [0.0, 2.7] vs 0.3 [0.0, 2.1]; =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.
简介
成人生长激素缺乏症（HPP）的表现为骨折/假性骨折、疼痛、肌肉无力和其他功能障碍。需要更好地表征疾病表型，以帮助识别残疾并治疗 HPP 患者。
方法
全球 HPP 登记处（NCT02306720）中成年患者（≥18 岁）的基线/预处理人口统计学、临床特征和患者报告的残疾/健康相关生活质量（HRQoL）数据，根据有无明显骨骼表现（骨骼组）和无骨骼表现的肌肉/疼痛表现（肌肉/疼痛组）进行分层，并进行描述性总结。使用健康评估问卷残疾指数（HAQ-DI）测量残疾程度，使用 36 项简短健康调查（SF-36v2）测量 HRQoL。
结果
468 名成年人中，300 名被归入骨骼组，73 名归入肌肉/疼痛组。骨骼组的基线年龄中位数较高（50.1 岁 vs 44.4 岁；=0.047），但 HPP 首次表现的年龄中位数较低（12.3 岁 vs 22.1 岁；=0.0473），有更多的体征和症状（中位数，4 项 vs 3 项；<0.0001）和受累的身体系统（中位数，3 项 vs 2 项；<0.0001）。骨骼组中需要任何形式的移动辅助器具的患者比例更高（分别为 22.6%和 3.5%；=0.001）。两组之间的 6 分钟步行测试距离相似。SF-36v2 和 HAQ-DI 评分在身体成分综合评分方面相似（n=238；平均[标准差]：40.2[11.0] vs 43.6[11.2]；=0.056），精神成分综合评分（n=238；平均[标准差]：43.6[11.3] vs 43.8[11.8]；=0.902），以及 HAQ-DI（n=239；中位数[最小值，最大值]：0.4[0.0，2.7] vs 0.3[0.0，2.1]；=0.22）。
结论
无论骨骼是否受累，成人生长激素缺乏症患者的生活质量受损程度相似。
登记处
https://clinicaltrials.gov/ct2/show/NCT02306720 和 https://www.encepp.eu/encepp/viewResource.htm?id=47907，标识符 NCT02306720；EUPAS13514。
Zotero 插件