The primary objective of this study was to evaluate the prevalence of low femoral and lumbar spine bone mineral density (BMD) in adults with arthrogryposis multiplex congenita (AMC). We performed a retrospective cohort analysis of adults with AMC who were enrolled in the French Reference Center for AMC and in the Pediatric and Adult Registry for Arthrogryposis (PARART, NCT05673265). Patients who had undergone dual-energy X-ray absorptiometry (DXA) and/or vitamin D testing were included in the analysis. Fifty-one patients (mean age, 32.9 ± 12.6 years) were included; 46 had undergone DXA. Thirty-two (32/51, 62.7%) patients had Amyoplasia, and 19 (19/51, 37.3%) had other types of AMC (18 distal arthrogryposis, 1 Larsen). Six patients (6/42, 14.3%) had a lumbar BMD Z score less than − 2. The mean lumbar spine Z score (− 0.03 ± 1.6) was not significantly lower than the expected BMD Z score in the general population. Nine (9/40, 22.5%) and 10 (10/40, 25.0%) patients had femoral neck and total hip BMD Z scores less than − 2, respectively. The mean femoral neck (− 1.1 ± 1.1) and total hip (− 1.2 ± 1.2) BMD Z scores in patients with AMC were significantly lower than expected in the general population (p < 0.001). Femoral neck BMD correlated with height (rs = 0.39, p = 0.01), age (rs = − 0.315, p = 0.48); total hip BMD correlated with height (rs = 0.331, p = 0.04) and calcium levels (rs = 0.41, p = 0.04). Twenty-five patients (25/51, 49.0%) reported 39 fractures. Thirty-one (31/36, 86.1%) patients had 25-hydroxyvitamin D levels less than 75 nmol/l, and 6 (6/36, 16.7%) had 25-hydroxyvitamin D levels less than 75 nmol/l. Adults with AMC had lower hip BMD than expected for their age, and they more frequently showed vitamin D insufficiency. Screening for low BMD by DXA and adding vitamin D supplementation when vitamin D status is insufficient should be considered in adults with AMC, especially if there is a history of falls or fractures.

本研究的主要目的是评估先天性多发性关节挛缩 (AMC) 成人股骨和腰椎骨密度 (BMD) 低的患病率。我们对法国 AMC 参考中心和儿童和成人关节弯曲登记处 (PARART, NCT05673265) 登记的 AMC 成人患者进行了回顾性队列分析。接受过双能 X 射线吸收测定法 (DXA) 和/或维生素 D 测试的患者均纳入分析。纳入 51 名患者（平均年龄，32.9 ± 12.6 岁）； 46 人接受了 DXA。 32 名（32/51，62.7%）患者患有肌萎缩，19 名（19/51，37.3%）患有其他类型的 AMC（18 名远端关节弯曲，1 名拉森）。六名患者 (6/42, 14.3%) 的腰椎 BMD Z 评分小于 - 2。平均腰椎 Z 评分 (- 0.03 ± 1.6) 并不显着低于一般人群的预期 BMD Z 评分。 9 名（9/40，22.5%）和 10 名（10/40，25.0%）患者的股骨颈和总髋部 BMD Z 评分分别小于 - 2。 AMC 患者的平均股骨颈 (− 1.1 ± 1.1) 和全髋 (− 1.2 ± 1.2) BMD Z 评分显着低于一般人群的预期 (p < 0.001)。股骨颈 BMD 与身高 (rs = 0.39, p = 0.01)、年龄 (rs = − 0.315, p = 0.48) 相关；髋部总 BMD 与身高（rs = 0.331，p = 0.04）和钙水平（rs = 0.41，p = 0.04）相关。 25 名患者 (25/51, 49.0%) 报告 39 处骨折。 31 名（31/36，86.1%）患者的 25-羟基维生素 D 水平低于 75 nmol/l，6 名（6/36，16.7%）患者的 25-羟基维生素 D 水平低于 75 nmol/l。患有 AMC 的成年人的髋部 BMD 低于其年龄的预期，而且他们更频繁地表现出维生素 D 不足。 对于患有 AMC 的成人，尤其是有跌倒或骨折史的患者，应考虑通过 DXA 筛查 BMD 是否较低，并在维生素 D 状态不足时添加维生素 D 补充剂。