Hepatological Insights into Budd-Chiari Syndrome: A 13-Year Retrospective Study on Genetic Mutations and TIPS Efficacy

Introduction Budd-Chiari Syndrome (BCS), caused by hepatic venous outflow obstruction, is a rare but life-threatening condition. Delayed diagnosis often results in severe complications. This study, conducted at the Department of Internal Medicine I, University Hospital Regensburg (UKR), provides a retrospective analysis of BCS patients, focusing on genetic predispositions and the role of transjugular intrahepatic portosystemic shunt (TIPS) in preventing cirrhosis.

Materials and Methods Seventeen patients diagnosed with BCS between 2010 and 2023 at the UKR were analyzed. Patients were categorized into acute (n=10) and chronic (n=7) BCS groups. Genetic testing for JAK2, Factor V Leiden, and MTHFR mutations was performed. Clinical outcomes, including the development of cirrhosis and the effectiveness of TIPS, were evaluated.

Results One patient died due to sepsis and acute liver failure, while another required liver transplantation. Genetic analysis identified JAK2 mutations in 10 patients, Factor V Leiden mutations in 2, and an MTHFR mutation in 1 patient. Hormonal contraception was the cause in one case, while two cases were idiopathic. TIPS was performed in 15 patients. Cirrhosis developed in 30% of acute BCS patients and 71.4% of chronic BCS patients.

Conclusion This study highlights the importance of early diagnosis and intervention, particularly with TIPS, in preventing cirrhosis in BCS patients. Genetic testing for JAK2 and Factor V Leiden mutations should be integrated into the diagnostic process. Early and effective management is crucial to improving outcomes in BCS.

Publication History

Article published online:
20 January 2025