Hyperhomocysteinemia: An Unusual Cause of Budd-Chiari Syndrome

高同型半胱氨酸血症:布加氏综合征的一种罕见病因

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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.

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