Budd-Chiari syndrome in children: Challenges and outcome

Area of Science:

• Hepatology
• Pediatric Gastroenterology
• Vascular Medicine

Background:

• Budd-Chiari syndrome (BCS) is a rare liver disease caused by hepatic venous outflow obstruction.
• Etiology and venous patterns of BCS vary globally; pediatric BCS predominantly shows primary causes with earlier presentation and better outcomes than adult BCS.
• Prothrombotic conditions are crucial in BCS pathogenesis, but diagnosis in children can be challenging.

Purpose of the Study:

• To review diagnostic and therapeutic advancements in pediatric Budd-Chiari syndrome.
• To highlight challenges in diagnosing and managing BCS in children.
• To discuss the impact of new technologies on pediatric BCS outcomes.

Main Methods:

• Review of current literature on pediatric Budd-Chiari syndrome.
• Analysis of diagnostic approaches including conventional thrombophilia tests and next-generation sequencing.
• Evaluation of therapeutic interventions, focusing on radiological endovascular techniques.
• Assessment of non-invasive fibrosis markers like liver and splenic stiffness measurement using elastography.

Main Results:

• Pediatric BCS is often primary, presenting earlier with potentially better treatment outcomes compared to adults.
• Next-generation sequencing enhances the diagnostic yield for underlying prothrombotic conditions in children.
• Advances in endovascular interventions have significantly improved BCS treatment and patient outcomes.
• Non-invasive elastography techniques offer a novel approach to monitor treatment response by measuring liver and splenic stiffness.

Conclusions:

• Pediatric BCS requires tailored diagnostic and therapeutic strategies.
• Integrating advanced genetic testing and non-invasive monitoring improves management and outcomes.
• Continued research and technological innovation are vital for addressing challenges in pediatric BCS.