红细胞生成性原卟啉病并发肝脏病变三例临床病理特征观察

Clinicopathologic features of three cases of erythropoietic protoporphyria with liver involvement

目的探讨红细胞生成性原卟啉病（erythropoietic protoporphyria，EPP）并发肝脏病变的临床及肝脏病理学改变。方法回顾性分析2011年7月至2014年8月3例EPP并发肝脏病变的临床资料及穿刺组织病理资料，并结合相关文献进行复习。结果3例患者均以持续性腹痛难以缓解入院．伴明显黄疸及肝功能异常等，影像学提示肝脏体积均匀性增大；病理检查示肝细胞体积弥漫性增大．胞质粉染颗粒状或泡沫状；在部分肝细胞胞质内、Kuffer细胞胞质内、肝细胞间的微胆管内及部分扩张的肝窦内均可见棕黄色颗粒状及棕褐色浓缩的块状物质沉积，其大小不等、分布不均；在偏光显微镜下可呈现红色双折光及特征性的中央黑色十字架结构（马耳他十字，Maltese Cross）。此外，肝组织内还可见肝索肿胀、拥挤、部分肝细胞点灶状坏死及脂肪样变性，汇管区可见散在、灶性淋巴细胞浸润伴纤维组织增生及汇管区小胆管增生等非特异性改变，未见胆管管腔明显扩张。结论充分了解和认识EPP并发肝脏病变的临床及肝脏病理学改变，有助于我们在临床实践中筛查出那些以腹部症状为主要表现的卟啉病患者，使其尽早得到有效的治疗。

Objective To investigate the clinicopathologic features of the erythropoietic protoporphyria （EPP） with liver involvement. Methods The clinical findings and hepatic biopsy of 3 cases of EPP diagnosed between July, 2011 to August, 2014 with liver involvement were reviewed, with relevant literature review. Results All patients presented with persistent and refractory abdominal pain, with obvious jaundice and deranged liver function. Imaging showed homogeneous hepatomegaly in all patients. Histologically, the hepatocytes were edematous, and contained numerous cytoplasmic globular brown pigments and bile pigments, which were also found in Kupffer cells, in the bile canaliculi and in some of dilated sinusoid. The pigments were of different sizes and showed uneven distribution. Some pigments showed bright red or yellow birefringence with a distinctive central maltese cross configuration on polarizing microscopy. Furthermore, some hepatocytes showed piecemeal necrosis and steatosis, the portal tracts were usually infiltrated by lymphocytes, with fibroplasia and biliary ductular reaction. There was no dilatation of intrahepatic bile ducts. Conclusion Full understanding of the clinical and pathological features of EPP with liver involvement can help to recognize this small group of patients, and to offer proper effective treatments.