Department of Internal Medicine, Linth Hospital, Uznach, Switzerland.
Department of Endocrinology and Clinical Nutrition, University Hospital Zurich, Switzerland / Department of Internal Medicine, Psychiatric University Hospital Zurich, Switzerland.
Swiss Med Wkly. 2020 Jul 24;150:w20294. doi: 10.4414/smw.2020.20294. eCollection 2020 Jul 13.
Hereditary haemochromatosis is a genetic disease characterised by progressive accumulation of iron in organs leading to many unspecific complaints, but even today diagnosis may be delayed. We aimed to identify symptoms associated with iron overload and parameters typical in patients with hereditary haemochromatosis which might help to facilitate detection and diagnosis in daily clinical routine.
We analysed the prospective Swiss Haemochromatosis Cohort (SHC), including 163 patients for whom serum ferritin levels at diagnosis were available. The cohort was stratified according to the degree of iron overload. Substantial iron overload was defined as serum ferritin concentrations ≥1000 µg/ml.
Patients with substantial iron overload had significantly higher liver enzymes (p <0.001) and more often arthropathy of the metacarpophalangeal joints (p <0.001) and upper ankle joint (p = 0.003). Elevated liver enzymes, especially elevated alanine aminotransferase (ALT) levels, were associated with a 10.1-fold (95% confidence interval [CI] 4.8–21.2) increased the risk for serum ferritin levels ≥1000 µg/ml. Furthermore, metacarpophalangeal joint arthropathy emerged as an important predictor for iron overload with a 3.6-fold increased risk (95% CI 1.8–7.1; p <0.001). Only elevated ALT levels and metacarpophalangeal joint arthropathy remained significantly associated with elevated iron levels after adjustment for possible confounders in patients diagnosed with hereditary haemochromatosis.
Elevated ALT levels and metacarpophalangeal arthropathy remained independently associated with elevated ferritin levels in patients with haemochromatosis and should prompt clinicians to consider iron overload in patients with hereditary haemochromatosis.  .
遗传性血色素沉着症是一种遗传性疾病，其特征是铁在器官中的逐渐积累，导致许多非特异性症状，但即使在今天，诊断也可能被延迟。我们旨在确定与铁过载相关的症状和遗传性血色素沉着症患者的典型参数，这些可能有助于在日常临床实践中促进检测和诊断。
我们分析了前瞻性瑞士血色素沉着症队列（SHC），其中包括 163 名患者，他们在诊断时可获得血清铁蛋白水平。该队列根据铁过载程度进行分层。大量铁过载定义为血清铁蛋白浓度≥1000μg/ml。
大量铁过载患者的肝酶显著升高（p<0.001），且更常出现掌指关节（p<0.001）和上踝关节（p=0.003）的关节炎。肝酶升高，尤其是丙氨酸氨基转移酶（ALT）升高，与血清铁蛋白水平≥1000μg/ml的风险增加 10.1 倍（95%置信区间[CI] 4.8–21.2）相关。此外，掌指关节关节炎是铁过载的一个重要预测因子，风险增加 3.6 倍（95%CI 1.8–7.1；p<0.001）。在调整了遗传性血色素沉着症患者可能的混杂因素后，仅升高的 ALT 水平和掌指关节关节炎与升高的铁水平仍显著相关。
在血色素沉着症患者中，升高的 ALT 水平和掌指关节炎与升高的铁蛋白水平仍然独立相关，这应该促使临床医生在遗传性血色素沉着症患者中考虑铁过载。
