血色病患者临床表现及病理学特征分析

The clinical manifestations and pathological characteristics of hemochromatosis

目的探讨血色病的临床特点,评价铁生化指标、腹部影像学、肝脏活组织病理学检查在血色病诊断中的作用。方法回顾性分析4例诊断为血色病临床资料完整的患者,对其临床特点、铁生化指标、腹部影像学、病理组织学和特殊染色及超微结构的特点进行分析。结果遗传性和继发性血色病各2例。腹胀、乏力、肝脾肿大、皮肤色素沉着为其常见临床表现;2例患者肝硬化,2例患者心脏扩大,1例患者出现心包积液伴有多发性关节炎。2例患者血清铁升高,3例患者转铁蛋白饱和度升高,4例患者血清铁蛋白均>1000ng/ml。2例肝穿病理检查均显示肝铁过多沉积。4例患者均存在不同程度贫血。结论血色病在我国较少见,除临床特点不明显诊断困难以外,与临床医生对该病认识不足亦有关,提高临床医生对血色病的认识可能有利于疾病的早期诊断。

Objective To investigate the clinical features of hemochromatosis and evaluate the effect iron biochemical tests, abdominal imaging, liver biopsy in the diagnosis of hemochromatosis. Methods Four patients diagnosed as hemochromatosis with complete clinical data were included in this retrospective study. We presented the clinical features, iron biochemical tests, abdominal imaging, histopathology, special staining and ultrastructural characteristics of liver biopsy of these patients. Results There were 3 males and 1 female, two of them were hereditary hemoehromatosis and other two cases were secondary hemochromatosis. Bloating, fatigue, hepatosplenomegaly and skin pigmentation were common clinical manifestations. Of the four cases, two patients with cirrhosis, 2 patients with cardiac enlargement, and pericardial effusion coexist with polyarthritis in one patients. Two patients had an elevated serum iron, three patients had an elevated transferrin saturation, and serum ferritin of all 4 patients were more than 1000 ng/ml. Liver biopsy showed excessive hepatic iron deposition in both patients. Four patients had varying degrees of anemia. Conclusion Hemochromatosis is less common in our country. It may be also associated with lack of knowledge about the disease, and improve clinicians awareness of hemochromatosis may be beneficial for early diagnosis of disease.