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Abstract：
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.
摘要：
这项研究的主要目的是评估患有多发性先天性关节炎（AMC）的成年人中低股骨和腰椎骨密度（BMD）的患病率。我们对法国AMC参考中心和小儿和成人关节病登记处的AMC成人进行了回顾性队列分析（PARART，NCT05673265).接受双能X线骨密度仪（DXA）和/或维生素D测试的患者被纳入分析。51名患者(平均年龄，包括32.9±12.6年）；46人接受了DXA。32例（32/51，62.7%）患者患有肌病，19例(19/51，37.3%)患有其他类型的AMC(18例远端关节移位，1拉森）。6例患者(6/42,14.3%)腰椎BMDZ评分小于-2。在普通人群中，平均腰椎Z评分（-0.03±1.6）并未显着低于预期的BMDZ评分。9例（9/40，22.5％）和10例（10/40，25.0％）患者的股骨颈和总髋部BMDZ评分分别小于-2。AMC患者的平均股骨颈（-1.1±1.1）和全髋关节（-1.2±1.2）BMDZ评分明显低于一般人群（p<0.001）。股骨颈BMD与身高相关(rs=0.39,p=0.01),年龄（rs=-0.315，p=0.48）；总髋部BMD与身高（rs=0.331，p=0.04）和钙水平（rs=0.41，p=0.04）相关。25例患者（25/51，49.0％）报告了39例骨折。31名（31/36，86.1％）患者的25-羟基维生素D水平低于75nmol/l，和6（6/36，16.7％）的25-羟基维生素D水平低于75nmol/l。患有AMC的成年人的髋部BMD低于其年龄的预期，他们更经常表现出维生素D不足。在患有AMC的成年人中，应考虑通过DXA筛查低BMD并在维生素D状态不足时添加维生素D补充剂，特别是如果有跌倒或骨折的历史。
