Nguyen Chi-Duc, Morel Vincent, Pierache Adeline, Lion Georges, Cortet Bernard, Flipo René-Marc, Canva-Delcambre Valérie, Paccou Julien
Service de rhumatologie, CHU Lille, Lille, France.
Service de radiologie ostéoarticulaire, CHU Lille, Lille, France.
Ther Adv Musculoskelet Dis. 2020 Jul 16;12:1759720X20939405. doi: 10.1177/1759720X20939405. eCollection 2020.
The aim of this study was to determine the frequency and characteristics of bone and joint complications, specifically bone fragility, joint replacement surgery, and arthropathy, in hereditary hemochromatosis (HH) and related factors.
This study was a cross-sectional observational study of 93 patients with HH. Radiographs of the hands, wrists, knees, and ankles were scored for joint space narrowing, erosions and cysts, osteophytes, and chondrocalcinosis. Prevalent (vertebral and non-vertebral) fragility fractures were recorded and bone mineral density (BMD) was systematically evaluated by dual energy X-ray absorptiometry. Bone fragility was defined as (i) a T-score ⩽ -2.5 at any site a prevalent fragility fracture, or (ii) a T-score between -1.0 and -2.5 at any site a prevalent fragility fracture.
The mean age of the patients was 60.0 (11.2) years, and 58.0% of them were men. The frequency of radiographic MCP2-3 arthropathy was 37.6% (95% CI 0.28-0.48). Radiographic MCP2-3 arthropathy was independently associated with older age [OR 1.17 (1.09-1.26) per year, < 0.0001], male sex [OR 3.89 (1.17-12.97), = 0.027] and C282Y+/+ genotype [OR 4.78 (1.46-15.68), = 0.010]. The frequency of joint replacement surgery was 12.9% (95% CI 0.07-0.21). The frequency of bone fragility was 20.4% (95% CI 0.13-0.30). Bone fragility was independently associated with hepatic cirrhosis [OR 8.20 (1.74-38.68), = 0.008].
Radiographic MCP2-3 arthropathy was found to occur in 37.6% of patients with HH. The association observed between this form of arthropathy and C282Y homozygosity, male sex, and older age suggests that demographic characteristics and genetic background are likely to be major determinants of this joint disorder and play a more important role than severity of iron overload. Bone fragility was observed in a fifth of the patients with HH, independently of genetic background and severity of iron overload, and was strongly associated with hepatic cirrhosis.
Future investigations should focus on pathogenesis and early identification of patients at risk of developing bone and joint complications secondary to HH.
本研究的目的是确定遗传性血色素沉着症（HH）患者骨与关节并发症的发生率及特征，特别是骨脆性、关节置换手术和关节病，并探究相关因素。
本研究是一项对93例HH患者的横断面观察性研究。对手、腕、膝和踝关节的X线片进行评分，评估关节间隙变窄、侵蚀和囊肿、骨赘以及软骨钙质沉着。记录现患（椎体和非椎体）脆性骨折情况，并通过双能X线吸收法系统评估骨密度（BMD）。骨脆性定义为：（i）任何部位的T值≤ -2.5且伴有现患脆性骨折；或（ii）任何部位的T值在-1.0至-2.5之间且伴有现患脆性骨折。
患者的平均年龄为60.0（11.2）岁，其中58.0%为男性。影像学检查发现掌指关节2 - 3关节病的发生率为37.6%（95%可信区间0.28 - 0.48）。影像学检查的掌指关节2 - 3关节病与年龄较大独立相关[每年的比值比（OR）为1.17（1.09 - 1.26），P < 0.0001]、男性[OR为3.89（1.17 - 12.97），P = 0.027]以及C282Y +/+基因型[OR为4.78（1.46 - 15.68），P = 0.010]。关节置换手术的发生率为12.9%（95%可信区间0.07 - 0.21）。骨脆性的发生率为20.4%（95%可信区间0.13 - 0.30）。骨脆性与肝硬化独立相关[OR为8.20（1.74 - 38.68），P = 0.008]。
发现37.6%的HH患者存在影像学检查的掌指关节2 - 3关节病。这种关节病形式与C282Y纯合性、男性性别和年龄较大之间的关联表明人口统计学特征和遗传背景可能是这种关节疾病的主要决定因素，并且比铁过载的严重程度发挥更重要的作用。在五分之一的HH患者中观察到骨脆性，其与遗传背景和铁过载的严重程度无关，且与肝硬化密切相关。
未来的研究应聚焦于HH继发骨与关节并发症的发病机制及高危患者的早期识别。
