Introduction:

Budd-Chiari Syndrome is a rare and underdiagnosed condition characterized by obstruction of hepatic venous outflow, leading to portal hypertension and progressive liver damage. Identifying prothrombotic states as underlying etiologies is crucial for diagnosis and management. The objective was analyze and describe prothrombotic states associated with BCS in patients treated at Uruguay’s National Liver Transplant Program.

Methodology:

A retrospective, descriptive study of seven adult patients diagnosed with BCS between January 2014 and December 2019. Etiological data were collected, including demographic, clinical, and laboratory findings. Diagnostic evaluation included testing for protein C and S deficiencies, Factor V Leiden, prothrombin mutation G20210A, antithrombin III, antiphospholipid syndrome (APS), paroxysmal nocturnal hemoglobinuria, MTHFR mutation, and JAK2 V617F mutation.

Results:

The cohort included 6 females (85%) and 1 male, with a median age of 31 years. All cases presented complications of portal hypertension. Prothrombotic etiologies were identified in six patients: APS (2), myeloproliferative neoplasms (2), prothrombin mutation G20210A (1), and Behçet’s disease (1). One case remained idiopathic. Four patients required liver transplantation, while three were managed with anticoagulation alone.

Conclusion:

Prothrombotic states are a significant underlying cause of BCS, often representing the initial manifestation of a thrombophilic condition. A multidisciplinary approach is essential for effective diagnosis and treatment, particularly in reference centers for hepatology and liver transplantation.

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