Université Paris 7, UFR Médicale, Assistance Publique Hôpitaux de Paris, Hôpital Lariboisière, Fédération de Rhumatologie, Paris, France.
Rheumatology (Oxford). 2010 Apr;49(4):760-6. doi: 10.1093/rheumatology/kep429. Epub 2010 Jan 22.
To determine the effects of iron depletion on serum levels of joint biomarkers and on joint symptoms in patients with hereditary haemochromatosis (HH).
Levels of biomarkers were measured in 18 patients with HH at the time of diagnosis and after iron depletion. The markers were type II collagen degradation (Coll2-1) and its nitrated form (Coll2-1NO(2)), type II procollagen synthesis (CPII), MPO, COMP and HA. For each patient, demographic data were collected and the global joint pain (visual analogue scale) was assessed before and after iron depletion by phlebotomy.
A total of 18 patients [10 males; mean (s.d.) age 48 (11) years] were homozygous for the C282Y mutation. No patient had liver dysfunction. Ferritin level before iron removal was 627.5 (range 133-3276) microg/l, and duration of the iron depletion phase was 295 (70-670) days. Serum levels of both Coll2-1 and CPII were significantly increased from diagnosis after iron depletion: 80.1 (55.6-113.5) vs 96.0 (48.8-136.3) nM (P = 0.004) and 731.4 (374.2-1012.3) vs 812.8 (535.8-1165.6) ng/ml (P = 0.03), respectively. Levels of other biomarkers were not modified by iron depletion. Ferritin level, which at baseline was correlated with body iron store (r = 0.63; P = 0.008), was significantly correlated with HA level measured before iron depletion (r = 0.60; P = 0.01). Global joint pain was not correlated with ferritin concentration and did not significantly decrease after iron depletion: 43 (19-73) vs 36 (16-67) mm (P = 0.07).
In patients with HH, cartilage homoeostasis is modified by iron excess and an increase in type II collagen turnover occurs after excess iron removal.
确定铁耗竭对遗传性血色素沉着症（HH）患者关节生物标志物血清水平和关节症状的影响。
在诊断时和铁耗竭后测量了 18 例 HH 患者的生物标志物水平。标志物为 II 型胶原降解（Coll2-1）及其硝化形式（Coll2-1NO（2））、II 型前胶原合成（CPII）、髓过氧化物酶（MPO）、COMP 和透明质酸（HA）。每位患者均采集人口统计学数据，并在铁耗竭后通过放血评估全球关节疼痛（视觉模拟量表）。
共有 18 例患者[10 名男性；平均（标准差）年龄 48（11）岁]为 C282Y 突变纯合子。无肝功能异常患者。铁去除前铁蛋白水平为 627.5（133-3276）μg/l，铁耗竭期持续 295（70-670）天。铁耗竭后 Coll2-1 和 CPII 血清水平均显著升高：80.1（55.6-113.5）比 96.0（48.8-136.3）nM（P=0.004）和 731.4（374.2-1012.3）比 812.8（535.8-1165.6）ng/ml（P=0.03）。其他生物标志物水平不受铁耗竭影响。铁蛋白水平与体内铁储存量相关（r=0.63；P=0.008），与铁耗竭前 HA 水平显著相关（r=0.60；P=0.01）。关节总疼痛与铁蛋白浓度不相关，铁耗竭后无显著下降：43（19-73）比 36（16-67）mm（P=0.07）。
在 HH 患者中，铁过量会改变软骨稳态，铁过量去除后 II 型胶原周转率增加。
