Sub-Acute Budd-Chiari Syndrome
DOI:
https://doi.org/10.60591/crspmi.572Keywords:
Budd-Chiari Syndrome, Janus Kinase 2/genetics, Myeloproliferative DisordersAbstract
Budd–Chiari syndrome (BCS) is a rare vascular liver disorder characterized by obstruction of the hepatic venous outflow tract that is frequently associated with underlying prothrombotic conditions. Myeloproliferative neoplasms (MPNs), particularly those harboring JAK2 mutations, represent a major etiological factor.
This case report describes a 53-year-old woman who presented with abdominal pain and ascites. Imaging revealed typical features of BCS, including hepatosplenomegaly, caudate lobe hypertrophy, heterogeneous liver parenchyma and prominent portosystemic collaterals. Hematological workup identified a JAK2 V617F-positive prefibrotic primary myelofibrosis as the underlying cause. Under medical therapy ascites resolved completely. Three years after diagnosis, the patient developed blue toe syndrome as a thromboembolic complication, prompting initiation of cytoreductive therapy with hydroxycarbamide and antiaggregant treatment with aspirin.
This case highlights the importance of early diagnosis and comprehensive evaluation for underlying prothrombotic conditions in patients with BCS. Routine screening for MPNs, including JAK2 mutations, is essential. Prompt anticoagulation and an individualized, multidisciplinary management approach are crucial for improving patient outcomes.
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Copyright (c) 2026 Andréa de Gottardi, Silke Klapdor
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