Budd-Chiari Syndrome (BCS) represents a rare yet clinically significant manifestation of hepatic venous obstruction, often associated with myeloproliferative neoplasms (MPNs). This abstract synthesizes a clinical case and discussion focusing on BCS within the context of MPNs, emphasizing diagnostic challenges, treatment modalities, and prognostic implications.
The presented case involves a 65-year-old patient exhibiting symptoms of ascites and abdominal pain, leading to the diagnosis of BCS secondary to MPNs. Clinical examination revealed jaundice, splenomegaly, and abnormal laboratory findings indicative of hepatocellular insufficiency. Imaging studies confirmed portal thrombosis and inferior mesenteric vein thrombosis, characteristic of BCS. Molecular analysis revealed the presence of the JAK2 V617F mutation, confirming an underlying MPN etiology.
Discussion highlights the intricate relationship between BCS and MPNs, underscoring the importance of early recognition and targeted management. Thrombotic complications in MPNs, including BCS, stem from complex pathophysiological mechanisms involving endothelial damage, clot formation, and genetic mutations. Diagnosis of BCS relies on imaging modalities such as Doppler ultrasound and CT angiography, while genetic testing aids in identifying underlying MPNs.
Treatment strategies encompass a multidisciplinary approach aimed at preventing thrombosis recurrence and managing complications. Anticoagulation, cytoreductive therapy, and interventional procedures like transjugular intrahepatic portosystemic shunt (TIPS) or liver transplantation constitute mainstays in BCS management. However, prognosis remains guarded, especially in patients with advanced disease or thromboembolic events.
The association between MPNs and BCS underscores the need for tailored counseling and vigilant monitoring in affected individuals. Adherence to updated guidelines and multidisciplinary collaboration are imperative for optimizing patient outcomes. Furthermore, recognizing MPNs as potential underlying causes of BCS is paramount, prompting active investigation and genetic testing in affected patients.
In conclusion, this abstract elucidates the complex interplay between BCS and MPNs, highlighting diagnostic intricacies, treatment modalities, and prognostic considerations. Comprehensive evaluation, timely intervention, and individualized care are pivotal in mitigating the impact of these rare yet formidable conditions on patient health and well-being.
Keywords: Budd-Chiari Syndrome (BCS); Transjugular Intrahepatic Portosystemic Shunt (TIPS); Myeloproliferative Neoplasms (MPNs); Philadelphia-Negative Chromosome (Ph1neg); Polycythemia de Vaquez (PV); Thrombocythemia (ET); Primary Myelofibrosis (PD)
Bellabah A., et al. “Budd-Chiari Syndrome in Myeloproliferative Neoplasms: Case Report and Literature Review". 11.4 (2024): 01-07.
© 2024 Bellabah A., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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