Department of Internal Medicine I, University Hospital Ulm, Ulm, Germany.
Dig Dis Sci. 2012 Nov;57(11):2988-94. doi: 10.1007/s10620-012-2243-z. Epub 2012 Jun 7.
Homozygous C282Y mutation in HFE gene is responsible for the majority of hereditary hemochromatosis cases. Since 1996 this mutation can be identified by a simple genetic test.
To determine the clinical presentations in patients with homozygous HFE C282Y mutation and the impact of genetic testing on the time needed for diagnosis.
A total of 414 patients diagnosed with C282Y homozygous hereditary hemochromatosis before and after the introduction of genetic testing were evaluated regarding symptoms and clinical findings at diagnosis as well as first hemochromatosis-related clinical features in their past medical history.
At the time of diagnosis, the predominant symptom was joint pain, in particular of the hands/wrists. Those patients presenting with hand/wrist arthralgia had significantly higher ferritin levels than patients without this joint involvement (p = 0.0005 for males and p < 0.0001 for females). After the introduction of the HFE genetic test an earlier diagnosis after first onset of hemochromatosis-associated clinical features was observed between 2006 and 2009 vs. 2000-2005 p = 0.01).
Arthralgia, in particular of the hands/wrists, is a hallmark of hereditary hemochromatosis and its presence is associated with higher ferritin levels. Despite the availability of a genetic test, it often takes more than 6 years from the first onset of clinical features to diagnose hereditary hemochromatosis. This underlines the importance of raising the awareness of hemochromatosis and its typical clinical presentations.
HFE 基因中的纯合 C282Y 突变是遗传性血色素沉着症的主要原因。自 1996 年以来，这种突变可以通过简单的基因测试来识别。
确定纯合 HFE C282Y 突变患者的临床表现以及基因检测对诊断所需时间的影响。
共评估了 414 例在基因检测引入前后被诊断为 C282Y 纯合遗传性血色素沉着症的患者，评估了他们在诊断时的症状和临床发现，以及他们过去病史中的首次与血色素沉着症相关的临床特征。
在诊断时，主要症状是关节痛，特别是手部/腕关节。那些出现手部/腕关节关节炎的患者的铁蛋白水平明显高于没有这种关节受累的患者（男性 p = 0.0005，女性 p < 0.0001）。在 HFE 基因检测引入后，我们观察到在 2006 年至 2009 年与 2000 年至 2005 年之间，首次出现与血色素沉着症相关的临床特征后，诊断时间更早（p = 0.01）。
关节炎，特别是手部/腕关节，是遗传性血色素沉着症的一个标志，其存在与更高的铁蛋白水平相关。尽管有基因检测，但从首次出现临床特征到诊断遗传性血色素沉着症通常需要超过 6 年的时间。这突显了提高对血色素沉着症及其典型临床表现的认识的重要性。
