Yazdali Koylu Nur, Koylu Bahadir, Sokmensuer Cenk, Balaban Yasemin
Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey.
Department of Pathology, Hacettepe University School of Medicine, Ankara, Turkey.
Hepatol Forum. 2021 May 24;2(2):76-79. doi: 10.14744/hf.2021.2021.0013. eCollection 2021 May.
The presence of autoantibody positivity with an elevated ferritin level and high transferrin saturation can create a diagnostic dilemma. This report describes the challenging case of 38-year-old male patient who presented with new-onset diabetes, malaise, weight loss, dark-yellow skin discoloration, and splenomegaly. Initial laboratory tests revealed thrombocytopenia, leucopenia, an elevated unconjugated bilirubin level, and mildly elevated liver enzymes in a cholestatic pattern. Antinuclear antibody and anti-smooth muscle antibody findings were positive with titers of 1/160 and 1/320, respectively, along with hypergammaglobulinemia. The transferrin saturation value was 92% and the ferritin level was 498 µg/L. HFE gene mutation analysis revealed a C282Y heterozygote mutation, which is not diagnostic, but supported a diagnosis of hereditary hemochromatosis (HH). A liver biopsy is the most accurate way to differentiate autoimmune hepatitis from HH, and confirmed a diagnosis of HH. This case highlights the importance of paying close attention to all findings to avoid misdiagnosis and treatment which might result in dangerous outcomes. Additionally, in spite of a genetic test, a liver biopsy has great value as an important tool to determine an accurate diagnosis in patients with iron overload, especially in patients with concomitant autoantibody positivity.
自身抗体阳性、铁蛋白水平升高和转铁蛋白饱和度升高的情况可能会造成诊断难题。本报告描述了一名38岁男性患者的具有挑战性的病例，该患者出现新发糖尿病、不适、体重减轻、皮肤暗黄变色和脾肿大。初始实验室检查显示血小板减少、白细胞减少、非结合胆红素水平升高以及胆汁淤积型肝酶轻度升高。抗核抗体和抗平滑肌抗体检测结果呈阳性，滴度分别为1/160和1/320，同时伴有高球蛋白血症。转铁蛋白饱和度值为92%，铁蛋白水平为498µg/L。HFE基因突变分析显示存在C282Y杂合子突变，这虽不具有诊断意义，但支持遗传性血色素沉着症（HH）的诊断。肝活检是区分自身免疫性肝炎和HH的最准确方法，并确诊为HH。该病例强调了密切关注所有检查结果以避免误诊和治疗可能导致危险后果的重要性。此外，尽管进行了基因检测，但肝活检作为确定铁过载患者准确诊断的重要工具具有很大价值，尤其是对于伴有自身抗体阳性的患者。
