Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1249-e1262. doi: 10.1210/clinem/dgab739.
Patients with X-linked hypophosphatemia (XLH) experience multiple musculoskeletal manifestations throughout adulthood.
To describe the burden of musculoskeletal features and associated surgeries across the lifespan of adults with XLH.
Three groups of adults were analyzed: subjects of a clinical trial, participants in an online survey, and a subgroup of the online survey participants considered comparable to the clinical trial subjects (according to Brief Pain Inventory worst pain scores of ≥ 4). In each group, the adults were categorized by age: 18-29, 30-39, 40-49, 50-59, and ≥ 60 years. Rates of 5 prespecified musculoskeletal features and associated surgeries were investigated across these age bands for the 3 groups.
Data from 336 adults were analyzed. In all 3 groups, 43% to 47% had a history of fracture, with the proportions increasing with age. The overall prevalence of osteoarthritis was > 50% in all 3 groups, with a rate of 23% to 37% in the 18- to 29-year-old group, and increasing with age. Similar patterns were observed for osteophytes and enthesopathy. Hip and knee arthroplasty was reported even in adults in their 30s. Spinal stenosis was present at a low prevalence, increasing with age. The proportion of adults with ≥ 2 musculoskeletal features was 59.1%, 55.0%, and 61.3% in the clinical trial group, survey group, and survey pain subgroup, respectively.
This analysis confirmed high rates of multiple musculoskeletal features beginning as early as age 20 years among adults with XLH and gradually accumulating with age.
X 连锁低磷血症（XLH）患者在成年期会出现多种骨骼肌肉表现。
描述 XLH 成人患者一生中骨骼肌肉特征和相关手术的负担。
分析了三组成年人：临床试验的受试者、在线调查的参与者，以及在线调查参与者的一个亚组（根据简明疼痛量表最差疼痛评分≥4）被认为与临床试验受试者相当。在每个组中，成年人根据年龄分为 18-29 岁、30-39 岁、40-49 岁、50-59 岁和≥60 岁。调查了这三组在这些年龄组中 5 种特定骨骼肌肉特征和相关手术的发生率。
对 336 名成年人的数据进行了分析。在所有三组中，有 43%至 47%的人有骨折史，且随着年龄的增长，这一比例也在增加。所有三组的骨关节炎总体患病率均>50%，18 至 29 岁组的患病率为 23%至 37%，且随着年龄的增长而增加。骨赘和肌腱病也出现了类似的模式。即使在 30 多岁的成年人中，也有髋关节和膝关节置换术的报告。脊柱狭窄的患病率较低，但随着年龄的增长而增加。在临床试验组、调查组和调查疼痛亚组中，有≥2 种骨骼肌肉特征的成年人比例分别为 59.1%、55.0%和 61.3%。
这项分析证实，XLH 成年患者早在 20 岁时就出现了多种骨骼肌肉特征，并且随着年龄的增长逐渐积累。
