Introduction Budd-Chiari Syndrome (BCS) is a rare condition characterized by intrahepatic venous thrombosis, usually with resulting portal hypertension. Common causes of BCS include myeloproliferative diseases, infections, malignancies, and systemic autoimmune diseases.¹ However, only a few case reports have described the uncommon occurrence of BCS as a primary presentation of APS.² Here, we report a unique case of BCS associated with APS that initially presented with upper gastrointestinal bleeding.

Case Report A 31-year-old male with non-remarkable history, who experienced two hospitalizations due to variceal upper gastrointestinal bleeding. During his second hospitalization, he complained of severe right upper quadrant abdominal pain, hematemesis, and tarry stools. Physical examination revealed hepatojugular reflux and the presence of a collateral venous network in his abdomen.

An endoscopy revealed grade 2 esophageal varices and hypertensive gastropathy. Abdominal Doppler ultrasound indicated normal hepatic parenchyma but showed a portal cavernoma (figure 1) likely due to severe portal hypertension, suggesting the possibility of an arterio-portal shunt. Subsequent CT imaging confirmed thrombosis in both intra and extra-hepatic vessels, consistent with Budd-Chiari Syndrome, splenomegaly and ascites. Work-up for hereditary hypercoagulable states and systemic lupus erythematosus were negative. During our diagnosis approach, antiphospholipid antibodies were positive (table 1). Patient was diagnosed with subacute BCS related to active APS. Anticoagulant therapy with a vitamin K antagonist was initiated. After 12 weeks, the lupus anticoagulant and beta 2 glycoprotein 1 IgM remained positive. He was regularly followed up by the outpatient clinics of our Rheumatology and Gastroenterohepatology departments.

Discussion and Conclusions This case underscores the significance of a differential diagnosis in the clinical assessment. The presence of post hepatic portal hypertension and an unusual site of thrombosis raised suspicions of thrombophilia. In rare cases, such as the current case, BCS can present even before the diagnosis of APS. Hence, we would like to emphasize that BCS can be an initial presentation of APS and the importance of considering atypical presentations in clinical practice.

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Abstract P4 Figure 1

USG Doppler shows cavernomatosis in the hepatic hilum region

References

1. Robertson M, Hayes P. Management of portal hypertension, Budd- Chiari syndrome and portal vein thrombosis. Medicine, 2023;5:427–433.

2. Janssen HL, Garcia-Pagan JC, Elias E, et al. Budd-Chiari syndrome: a review by an expert panel. J Hepatol. 2003;38(3):364–371.