Hematological aspects of extrahepatic portal vein obstruction in childhood

Abstract

Extrahepatic portal vein obstruction is rare but considerable cause of portal hypertension (PHT). Patients may present with cytopenia(s) or bleeding, to hematology clinics. The aim of this study is to present our experience of patients with this rare disease and emphasize the value of thrombophilia assessment in portal venous thrombosis (PVT). Methods: Children admitted to our hospital between June 2006 and October 2018 with diagnosis of extra-hepatic portal venous anomalies are included. Vascular anomalies were defined as trombus and/ or portal cavernoma (PC). The medical reports were assessed retrospectively. Results: Twelve patients (Female/ Male: 9/ 3) aged 4.6± 3.4 years old are included. The most common complaints on admission were abdominal pain and upper gastrointestinal bleeding. Ten patients (83%) had cytopenia(s) at diagnosis; eight (67%) had anemia, five had (42%) leukopenia and nine had (75%) thrombocytopenia. Imaging studies revealed thrombus in ten (83%) and PC in ten (83%) patients. Five patients had a history of umbilical catheterization and one was also positive for homozygous mutation of Factor V Leiden. Four patients were positive for heterozygous mutation of PAI-1. Conclusion: PVT during childhood is rare, it may present with thrombocytopenia, splenomegaly and esophageal varices bleeding. Although PVT it is not a common cause of thrombocytopenia in children, clinicians are encouraged to get information regarding history of umbilical catheterization in neonatal period and obtain portal doppler ultrasound in cases with splenomegaly. Further studies about PVT Plasminogen activator inhibitor 1 mutations are needed. © 2019 Refik Saydam National Public Health Agency (RSNPHA).