Ernst Linda M, Grossman Andrew B, Ruchelli Eduardo D
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Pediatr Dev Pathol. 2008 Mar-Apr;11(2):160-3. doi: 10.2350/07-06-0301.1. Epub 2007 Jul 2.
The association between placental fetal thrombotic vasculopathy (FTV) and perinatal liver disease was not recognized until 2002, when Dahms and colleagues reported a series of 3 patients in whom severe liver disease developed in the first 2 days of life. All had abnormal liver histology and showed a variety of abnormalities, including Budd-Chiari syndrome, changes mimicking extrahepatic obstruction, lobular fibrosis, cholestasis, and hepatocyte giant cell transformation. We report recurrent significant perinatal liver disease in a family, associated with proven FTV in at least 1 pregnancy. A 30-year-old gravida 4 female with a history of heterozygous methylenetetrahydrofolate A1298C mutation had a normal 1st pregnancy and then experienced an intrauterine fetal demise at 38 weeks of gestation. Placental examination revealed extensive occlusive and mural thrombi of chorionic vessels associated with a large focus of avascular villi. Histologic examination of the liver showed extensive giant cell transformation and hepatocyte dropout. No excess hemosiderin pigment was present in the liver, pancreas, or heart. A 3rd pregnancy produced a live-born term infant with transient neonatal cholestasis. The 4th pregnancy also produced a term neonate who presented with acute hepatic failure of unknown cause, ultimately requiring liver transplantation. Fetal thrombotic vasculopathy is an underrecognized association with perinatal liver disease that may be associated with abnormal liver perfusion and that may recur in families, especially when a genetic thrombophilia is present.
胎盘胎儿血栓性血管病（FTV）与围产期肝病之间的关联直到2002年才被认识到，当时达姆斯及其同事报告了一系列3例患者，这些患者在出生后的头2天内出现了严重的肝病。所有患者的肝脏组织学均异常，并表现出多种异常，包括布-加综合征、类似肝外梗阻的改变、小叶纤维化、胆汁淤积和肝细胞巨细胞转化。我们报告了一个家族中反复出现的严重围产期肝病，至少在1次妊娠中与已证实的FTV相关。一名30岁、孕4产的女性，有杂合子亚甲基四氢叶酸A1298C突变史，第1次妊娠正常，然后在妊娠38周时发生宫内胎儿死亡。胎盘检查发现绒毛膜血管广泛存在闭塞性和壁血栓，伴有大片无血管绒毛。肝脏组织学检查显示广泛的巨细胞转化和肝细胞脱落。肝脏、胰腺或心脏中未发现过多的含铁血黄素色素。第3次妊娠分娩出一名足月活产婴儿，患有短暂性新生儿胆汁淤积。第4次妊娠也分娩出一名足月新生儿，该新生儿出现原因不明的急性肝衰竭，最终需要进行肝移植。胎儿血栓性血管病是一种与围产期肝病相关但未被充分认识的疾病，可能与肝脏灌注异常有关，并且可能在家族中复发，尤其是在存在遗传性血栓形成倾向时。
