Wernicke Dirk, Seipelt Eva, Schmidt Wolfgang A, Gromnica-Ihle Erika
Medical Center for Rheumatology Berlin-Buch, Karower Str. 11, 13 125 Berlin, Germany.
Rheumatol Int. 2006 Aug;26(10):939-41. doi: 10.1007/s00296-006-0113-8. Epub 2006 Feb 9.
Articular symptoms are frequent manifestations of hereditary haemochromatosis. The clinical signs of the arthropathy of haemochromatosis are not specific and difficult to identify in case of co-incidence of haemochromatosis with Heberden's and Bouchard's osteoarthritis or rheumatoid arthritis (RA). Here the manifestation of RA in a patient is reported who was successfully treated for haemochromatosis. Six months after terminating phlebotomy, the patient presented again suffering from impressive swelling of all MCP joints, showing strong synovitis in ultrasound, and from morning stiffness longer than 1 h. ESR, CRP, IgM rheumatoid factor, and anti-cyclic citrullinated peptide antibodies were markedly elevated. Based on these findings the diagnosis of RA was made. Therefore, the high prevalence of RA and haemochromatosis in the general population underlines the usefulness of a screening for HFE gene mutations in RA patients with an atypical course of the disease as well as in patients with undifferentiated arthritis.
关节症状是遗传性血色素沉着症的常见表现。血色素沉着症关节病的临床体征并不具有特异性,当血色素沉着症与赫伯登结节和布夏尔结节性骨关节炎或类风湿关节炎(RA)同时存在时,很难识别。本文报告了一名成功治疗血色素沉着症的患者出现RA表现的情况。在停止放血治疗六个月后,患者再次出现所有掌指关节明显肿胀,超声显示有强烈的滑膜炎,且晨僵时间超过1小时。红细胞沉降率(ESR)、C反应蛋白(CRP)、IgM类风湿因子和抗环瓜氨酸肽抗体均显著升高。基于这些发现,做出了RA的诊断。因此,普通人群中RA和血色素沉着症的高患病率强调了对疾病病程不典型的RA患者以及未分化关节炎患者进行HFE基因突变筛查的有用性。