# Budd-Chiari Syndrome Secondary to Essential Thrombocythaemia Complicated by Acquired Von Willebrand Disease and Mimicking Hepatic Malignancy: A Case Report

## TL;DR

A man with a rare blood disorder developed liver issues that initially looked like cancer but was actually a complex syndrome requiring specialized treatment.

## Contribution

Highlights the rare but important association between essential thrombocythaemia, Budd-Chiari syndrome, and acquired von Willebrand disease.

## Key findings

- Budd-Chiari syndrome was diagnosed in a patient with essential thrombocythaemia and acquired von Willebrand disease.
- Successful treatment included cytoreductive therapy, anticoagulation, and hepatic vein intervention.
- Emphasizes the need for multidisciplinary care and screening for von Willebrand disease in similar cases.

## Abstract

Budd-Chiari syndrome (BCS) secondary to essential thrombocythaemia (ET) is an uncommon but clinically significant complication of myeloproliferative neoplasms (MPNs). This report presents a case of a male in his mid-40s who presented with deranged liver function tests (LFTs), dyspnoea, fatigue, pruritus, and abdominal distension. Initial CT imaging suggested a possible hepatic malignancy; however, subsequent MRI demonstrated features strongly indicative of BCS. Further investigations confirmed Janus kinase 2 (JAK2) mutation-positive ET and acquired von Willebrand syndrome (AvWS). The patient was managed with cytoreductive therapy; initially, hydroxycarbamide and anagrelide, later transitioned to ruxolitinib, alongside lifelong anticoagulation. He later underwent successful hepatic vein recanalization and venoplasty. At six-month follow-up, he demonstrated improved LFTs, stable blood counts, and no recurrent thrombotic events, with ongoing surveillance for variceal bleeding. This case underscores the importance of considering BCS in patients with ET and hepatic abnormalities, screening for AvWS to balance thrombotic/bleeding risks, and utilizing a multidisciplinary team (MDT) approach for optimal management.