# Hyperhomocysteinemia: An Unusual Cause of Budd-Chiari Syndrome

## TL;DR

A 52-year-old man with Budd-Chiari syndrome was found to have hyperhomocysteinemia as the rare underlying cause, highlighting the importance of considering this condition in diagnosis.

## Contribution

The paper presents a rare case linking hyperhomocysteinemia to Budd-Chiari syndrome, emphasizing its diagnostic significance.

## Key findings

- Elevated homocysteine levels were identified as the cause of Budd-Chiari syndrome in the patient.
- Imaging and lab studies confirmed hepatic venous thrombosis consistent with BCS.
- Anticoagulation therapy improved the patient's condition, underscoring the importance of timely diagnosis.

## Abstract

Budd-Chiari syndrome (BCS) is a rare disorder caused by hepatic venous outflow obstruction, with clinical presentation ranging from asymptomatic disease to acute liver failure. We report a case of secondary BCS due to hyperhomocysteinemia in a 52-year-old male patient with a history of alcohol use. He presented with jaundice, vomiting, and melena. Examination showed icterus and tender hepatomegaly, while laboratory investigations revealed elevated liver enzymes. Doppler ultrasound and contrast-enhanced CT of the abdomen demonstrated caudate lobe hypertrophy, intrahepatic IVC and portal vein thrombosis, and non-visualization of hepatic veins, consistent with BCS. A hypercoagulable workup revealed elevated homocysteine levels, with other parameters within the normal range, confirming hyperhomocysteinemia as the underlying etiology. The patient was managed with anticoagulation, initially with heparin followed by warfarin. Hyperhomocysteinemia, though rare, should be considered in the evaluation of BCS, as prompt diagnosis using imaging and laboratory studies allows timely intervention and improved outcomes.