Familial perinatal liver disease and fetal thrombotic vasculopathy

Linda M. Ernst*, Andrew B. Grossman, Eduardo D. Ruchelli

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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 under-recognized 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.

Original languageEnglish (US)
Pages (from-to)160-163
Number of pages4
JournalPediatric and Developmental Pathology
Issue number2
StatePublished - Mar 1 2008


  • Avascular villi
  • Fetal thrombosis
  • Giant cell transformation
  • Liver failure
  • Placenta

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine


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