Pediatric Budd-Chiari Syndrome: A Systematic Review of Etiology, Diagnosis, and Management

Budd-Chiari syndrome (BCS), or hepatic venous outflow tract obstruction, is a rare but important cause of chronic liver disease in children. Pediatric BCS differs from adult disease in etiology, clinical presentation, management strategies, and outcomes. Because of its rarity, available data are limited and fragmented. This review summarizes current evidence on the epidemiology, clinical features, diagnostic approach, management, and outcomes of pediatric BCS.

A comprehensive review of published literature was performed, including observational studies, case series, and reviews describing pediatric BCS. Data on demographics, etiology, clinical presentation, diagnostic modalities, radiological interventions (RIs), liver transplantation (LT), and outcomes were analyzed.

Pediatric BCS predominantly affects boys and most commonly presents as chronic disease with features of portal hypertension, including ascites and hepatomegaly. Hepatic vein obstruction is the most frequent anatomical pattern, followed by combined hepatic vein and inferior vena cava involvement. An underlying prothrombotic state is reported in 25-75% of cases, although true prevalence remains uncertain due to inconsistent testing. Ultrasound Doppler is the preferred initial diagnostic modality, with computed tomography or magnetic resonance imaging used for confirmation and procedural planning. Anticoagulation alone has limited efficacy, and most children require RI. Hepatic vein angioplasty with or without stenting is effective for short-segment obstruction, while transjugular intrahepatic portosystemic shunt is preferred for extensive disease or failed recanalization. Technical success rates exceed 85%, with reported overall survival of 80-100%. Reinterventions are common, particularly following angioplasty alone. LT is reserved for acute liver failure, refractory portal hypertension, or failed interventions and yields outcomes comparable to other pediatric indications.

Pediatric BCS is a distinct clinical entity requiring early recognition and a multidisciplinary, stepwise management approach. Radiological interventions form the cornerstone of therapy, while LT remains definitive for advanced disease. Prospective multicenter studies are needed to optimize long-term management..