Sahinbegovic Enijad, Dallos Tomáš, Aigner Elmar, Axmann Roland, Manger Bernhard, Englbrecht Matthias, Schöniger-Hekele Maximilian, Karonitsch Thomas, Stamm Tanja, Farkas Martin, Karger Thomas, Stölzel Ulrich, Keysser Gernot, Datz Christian, Schett Georg, Zwerina Jochen
University of Erlangen-Nuremberg, Erlangen, Germany.
Arthritis Rheum. 2010 Dec;62(12):3792-8. doi: 10.1002/art.27712.
To determine the prevalence, clinical picture, and disease burden of arthritis in patients with hereditary hemochromatosis.
In this cross-sectional observational study of 199 patients with hemochromatosis and iron overload, demographic and disease-specific variables, genotype, and organ involvement were recorded. The prevalence, intensity, and localization of joint pain were assessed, and a complete rheumatologic investigation was performed. Radiographs of the hands, knees, and ankles were scored for joint space narrowing, erosions, osteophytes, and chondrocalcinosis. In addition, the number and type of joint replacement surgeries were recorded.
Joint pain was reported by 72.4% of the patients. Their mean ± SD age at the time of the initial joint symptoms was 45.8 ± 13.2 years. If joint pain was present, it preceded the diagnosis of hemochromatosis by a mean ± SD of 9.0 ± 10.7 years. Bony enlargement was observed in 65.8% of the patients, whereas synovitis was less common (13.6%). Joint space narrowing and osteophytes as well as chondrocalcinosis of the wrist and knee joints were frequent radiographic features of hemochromatosis. Joint replacement surgery was common, with 32 patients (16.1%) undergoing total joint replacement surgery due to severe OA. The mean ± SD age of these patients was 58.3 ± 10.4 years at time of joint replacement surgery. Female sex, metacarpophalangeal joint involvement, and the presence of chondrocalcinosis were associated with a higher risk of early joint failure (i.e., the need for joint replacement surgery).
Arthritis is a frequent, early, and severe symptom of hemochromatosis. Disease is not confined to involvement of the metacarpophalangeal joints and often leads to severe damage requiring the replacement of joints.
确定遗传性血色素沉着症患者中关节炎的患病率、临床表现及疾病负担。
在这项针对199例血色素沉着症和铁过载患者的横断面观察性研究中，记录了人口统计学和疾病特异性变量、基因型及器官受累情况。评估关节疼痛的患病率、强度及部位，并进行全面的风湿病学检查。对手部、膝部和踝部的X线片进行评分，评估关节间隙变窄、侵蚀、骨赘及软骨钙质沉着情况。此外，记录关节置换手术的数量和类型。
72.4%的患者报告有关节疼痛。初次出现关节症状时，他们的平均年龄±标准差为45.8±13.2岁。若存在关节疼痛，其出现时间比血色素沉着症诊断提前的平均时间±标准差为9.0±10.7年。65.8%的患者观察到骨肿大，而滑膜炎较少见（13.6%）。关节间隙变窄、骨赘以及腕关节和膝关节的软骨钙质沉着是血色素沉着症常见的影像学特征。关节置换手术很常见，32例患者（16.1%）因严重骨关节炎接受了全关节置换手术。这些患者在进行关节置换手术时的平均年龄±标准差为58.3±10.4岁。女性、掌指关节受累及软骨钙质沉着与早期关节功能衰竭（即需要进行关节置换手术）的较高风险相关。
关节炎是血色素沉着症常见、早期且严重的症状。疾病不仅局限于掌指关节受累，还常导致严重损害，需要进行关节置换。
