Clinical presentation, management, and outcomes for noncirrhotic portal hypertension in children

Abstract

Objectives: Noncirrhotic portal hypertension (NCPH) is a rare condition marked by elevated portal venous pressure in the absence of cirrhosis and is caused by intrahepatic and extrahepatic pathways. This study aimed to describe the characteristics, etiologies, clinical manifestations, and outcomes of NCPH in children.

Methods: This study was a retrospective chart review of 63 patients in a single tertiary center. Participants were children (≤18 years old) diagnosed with portal hypertension in the absence of cirrhosis.

Results: The three most common etiologies included extrahepatic portal vein obstruction (EHPVO) in 27 (42.8%), congenital hepatic fibrosis (CHF) in 17 (27%), and nodular regenerative hyperplasia (NRH) in 10 (15.9%). At diagnosis, most patients presented with incidental splenomegaly (20; 32%) or gastrointestinal (GI) bleeding (20; 32%); 20.5% of children had ongoing evidence of clinical GI bleeding despite endoscopic intervention or beta-blocker use. Children with GI bleeding had significantly lower platelet counts (97.4 vs. 178.5 × 10³/μL, p = 0.005). Esophagogastroduodenoscopy (EGD) was performed in 43/63 (68.3%), commonly revealing esophageal varices (EV; 37; 86%) with EV Grade 3 in two-thirds. Liver transplantation was performed in 9 (21%), surgical shunts in 7 (11%), and transjugular intrahepatic portosystemic shunt (TIPS) in 2 (3%). The overall mortality rate was 3/63 (5%), with two deaths due to hemorrhagic shock in children with oncologic comorbidities.

Conclusions: NCPH, with diverse underlying etiologies, often presents with splenomegaly and variceal bleeding. Most patients who undergo endoscopy have varices. Treatment options include endoscopic treatment, shunting, and liver transplant; mortality was seen in 5% of children in this series.

Keywords: congenital hepatic fibrosis; extrahepatic portal vein obstruction; nodular regenerative hyperplasia; pediatrics.