Accidental Fall Revealing an Atypical Presentation of a Rare Disease: A Case of Budd-Chiari Syndrome

Budd-Chiari syndrome (BCS) is a rare vascular disorder characterized by hepatic venous outflow obstruction. Polycythemia vera (PV) is a common underlying etiology contributing to BCS. The diagnosis of metabolic dysfunction-associated steatohepatitis (MASH) in this case warrants reconsideration based on recent diagnostic criteria. We report a case of a 53-year-old male patient who presented with weakness, lethargy, and chest pain. A recent fall resulting in a spiral fracture of the thoracic spine led to an incidental diagnosis of BCS, associated with a Janus kinase 2 (JAK2) mutation, protein C deficiency, and PV. Laboratory investigations revealed elevated red blood cell and platelet counts, normal hemoglobin levels, abnormal coagulation parameters, and elevated transaminase levels. The diagnostic workup included a contrast-enhanced abdominal CT scan, an upper gastrointestinal endoscopy, a hepatic vein Doppler ultrasound, and a bilateral lower limb venous Doppler ultrasound. This case underscores the importance of prompt diagnosis and multidisciplinary management of BCS, highlighting PV as a common underlying cause. While MASH was diagnosed based on the clinical and laboratory findings, current hepatology guidelines emphasize histological confirmation as the diagnostic gold standard, warranting further evaluation in such cases.