原发性血色病伴肝癌临床病理观察

Primary haemochromatosis with hepatocellular carcinoma and recurred after surgery

目的探讨原发性血色病的临床病理特征。方法对1例原发性血色病伴肝癌及肝癌术后复发患者进行临床、病理组织学和特殊染色观察,并结合文献探讨其发病机制、病理形态及鉴别诊断。比较放血疗法治疗前后患者肝铁沉积变化及病理组织学改变。结果原发性血色病为常染色体隐性遗传性铁贮积病,过量铁在肝、胰、心、肾、皮肤及脾等部位广泛沉积,造成靶器官实质细胞破坏,导致脏器功能损害。肝是最早和最严重的铁聚集部位,肝硬化和肝癌是本病的主要致死原因。反复放血排出体内的铁是此病最有效、最经济的治疗方法。结论此病早期无特异表现,极易漏诊,确诊有赖于肝活检的病理诊断。早期诊断、早期治疗可明显延长患者的生存期。

Objective To explore the clinicopathological features of primary haemochromatesis （PH）. Methods A case of PH was investigated with clim＇copatholngical analyses and specific stains. The mechanism of the disease, pathological features and differential diagnosis were discussed based on literatures. Results Haemochromatesis was characterized by an excessive absorption of dietary iron through the duodenal mucosa. Progressive iron leading of parenchymal organs resulted in the mid-life onset of clinical complications, and patients might succumb to cardiac failure and/or hepatocellular carcinoma. The most serious complication of PH was hepatocellular carcinoma. Conclusion The gold staodared establishing the diagnosis of PH is biopsy of liver. Patients who undergo early diagnosis and phlebotomy treatment before the development of organ damage have a normal life expectancy.