Unveiling the Uncommon: A Case Report of Atypical Budd-Chiari Syndrome Presentation

Abstract

Background: Budd-Chiari syndrome (BCS) is an uncommon liver disorder characterized by the obstruction of the hepatic venous outflow tract. It is characterized by an obstruction in either the hepatic veins or the inferior vena cava. We share a case study of a female patient who initially exhibited mild symptoms, like weakness, fatigue, with a history of menorrhagia, without any overt signs of chronic liver disease. Subsequent evaluation revealed that she was actually suffering from Chronic Budd-Chiari syndrome. This condition typically presents with a classical triad of symptoms: abdominal pain, hepatomegaly, and ascites. This case highlights the diagnostic challenge posed by such disorders and the need for a detailed evaluation in a case of unexplained pancytopenia. However, atypical presentations can complicate diagnosis and management. This case report highlights an uncommon presentation of BCS, detailing its clinical course, diagnostic challenges, and management strategies.

Case Report: A 24-year-old female presented with generalized weakness, fatigue, and menorrhagia. She had a history of blood transfusion a few years prior. Physical examination revealed pallor and hepatosplenomegaly, without signs of heart failure or liver disease. Laboratory workup indicated severe anemia with pancytopenia, consistent with iron deficiency anemia. Despite treatment, persistent thrombocytopenia prompted further investigation. Abdominal ultrasound confirmed hepatosplenomegaly, and a triple-phase CT scan suggested Budd-Chiari syndrome. Digital Subtraction Angiography (DSA) revealed a complete blockage of the suprahepatic inferior vena cava (IVC). Balloon venoplasty and stenting were performed to improve blood flow and reduce collateral circulation.

Result: Post-procedure, the patient showed marked clinical improvement, with a decrease in hepatosplenomegaly and resolution of anemia. However, thrombocytopenia persisted, necessitating ongoing monitoring. This case underscores the importance of considering atypical presentations in the diagnosis of Budd-Chiari syndrome and highlights the efficacy of advanced interventional radiology techniques in its management.

Conclusion: Budd-Chiari Syndrome can present with atypical symptoms, complicating its diagnosis. Early recognition and intervention are crucial for improving patient outcomes. Advanced imaging and interventional radiology techniques play a pivotal role in managing BCS, providing symptomatic relief and improving prognosis.

Recommendations: Clinicians should maintain a high index of suspicion for BCS in patients with unexplained hepatic abnormalities and pancytopenia. A multidisciplinary approach, involving hepatologists, radiologists, and hematologists, is essential for optimal management. Regular follow-up and monitoring are recommended to manage potential complications and ensure sustained patient improvement.

Keywords: Budd-Chiari Syndrome, Atypical Presentation, Thrombocytopenia, Interventional Radiology, Hepatic Vein Obstruction.