Budd-Chiari syndrome in children: Challenges and outcome

Abstract

Budd-Chiari syndrome (BCS) is an uncommon disease of the liver, characterised by obstruction of the hepatic venous outflow tract. The etiological spectrum of BCS as well as venous obstruction pattern show wide geographical and demographic variations across the globe. Compared to adults with BCS, children have primary BCS as the predominant etiology, earlier clinical presentation, and hence better treatment outcome. Underlying prothrombotic conditions play a key role in the etiopathogenesis of BCS, though work-up for the same is often unyielding in children. Use of next-generation sequencing in addition to conventional tests for thrombophilia leads to better diagnostic yield. In recent years, advances in radiological endovascular intervention techniques have revolutionized the treatment and outcome of BCS. Various non-invasive markers of fibrosis like liver and splenic stiffness measurement are being increasingly used to assess treatment response. Elastography techniques provide a novel non-invasive tool for measuring liver and splenic stiffness. This article reviews the diagnostic and therapeutic advances and challenges in children with BCS.

Keywords: Budd-Chiari syndrome; Direct intrahepatic porto-systemic shunt; Liver stiffness; Radiological endovascular intervention; Shear-wave elastography; Splenic stiffness; Transjugular intrahepatic porto-systemic shunt.