EC Gastroenterology and Digestive System

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)

1. Nangalia J and Green AR. “Myeloproliferative neoplasms: from origins to outcomes”. Blood23 (2017): 2475-2483.
2. Barbui T., et al. “The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion”. Blood Cancer Journal 2 (2018): 15.
3. Greenfield G., et al. “Molecular pathogenesis of the myeloproliferative neoplasms”. Journal of Hematology and Oncology 14 (2021): 103.
4. Moliterno AR., et al. “Clinical insights into the origins of thrombosis in myeloproliferative neoplasms”. Blood 9 (2021): 1145-1153.
5. Găman MA., et al. “Liquid biopsy and potential liquid biopsy-based biomarkers in Philadelphia-negative classical myeloproliferative neoplasms: A systematic review”. Life7 (2021): 677.
6. Darwish Murad S., et al. “Etiology, management, and outcome of the Budd-Chiari syndrome”. Annals of Internal Medicine 3 (2009): 167-175.
7. Primignani M., et al. “Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis”. Hepatology 6 (2006): 1528-1534.
8. Darwish Murad S., et al. “Determinants of survival and the effect of portosystemic shunting in patients with Budd-Chiari syndrome”. Hepatology2 (2004): 500-508.
9. Valla D., et al. “Primary myeloproliferative disorder and hepatic vein thrombosis. A prospective study of erythroid colony formation in vitro in 20 patients with Budd-Chiari syndrome”. Annals of Internal Medicine3 (1985): 329-334.
10. Hirshberg B., et al. “Flow cytometric analysis of autonomous growth of erythroid precursors in liquid culture detects occult polycythemia vera in the Budd-Chiari syndrome”. Journal of Hepatology4 (2000): 574-578.
11. Amitrano L., et al. “Thrombophilic genotypes, natural anticoagulants, and plasma homocysteine in myeloproliferative disorders: relationship with splanchnic vein thrombosis and arterial disease”. American Journal of Hematology 2 (2003): 75-81.
12. Pagliuca A., et al. “In vitro colony culture and chromosomal studies in hepatic and portal vein thrombosis-- possible evidence of an occult myeloproliferative state”. Quarterly Journal of Medicine281 (1990): 981-989.
13. Patel RK., et al. “Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome”. Gastroenterology 7 (2006): 2031-2038.
14. De Stefano V., et al. “Spontaneous erythroid colony formation as the clue to an underlying myeloproliferative disorder in patients with Budd-Chiari syndrome or portal vein thrombosis”. Seminars in Thrombosis and Hemostasis 5 (1997): 411-418.
15. Smalberg JH., et al. “Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis”. Blood25 (2012): 4921-4928.
16. Levy VG., et al. “Polycythemia and the Budd-Chiari syndrome: study of serum erythropoietin and bone marrow erythroid progenitors”. Hepatology5 (1985): 858-861.
17. Chievitz E and Thiede T. “Complications and causes of death in polycythaemia vera”. Acta Medica Scandinavica 172 (1962): 513-523.
18. Tefferi A., et al. “Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis”. Blood16 (2014): 2507-2513.
19. Tefferi A., et al. “Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study”. Leukemia9 (2013): 1874-1881.
20. “Polycythemia vera: the natural history of 1213 patients followed for 20 years. Gruppo Italiano Studio Polycythemia”. Annals of Internal Medicine 9 (1995): 656-664.
21. Passamonti F., et al. “Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia”. American Journal of Medicine 10 (2004): 755-761.
22. Marchioli R., et al. “Vascular and neoplastic risk in a large cohort of patients with polycythemia vera”. Journal of Clinical Oncology 10 (2005): 2224-2232.
23. “Polycythemia vera: the natural history of 1213 patients followed for 20 years. Gruppo Italiano Studio Policitemia”. Annals of Internal Medicine 9 (1995): 656-664.
24. Lawrence JH., et al. “The nature and treatment of polycythemia, 1953, studies on 263 patients”. Medicine (Baltimore)3 (1953): 323-388.
25. Barbui T., et al. “The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion”. Blood Cancer Journal 2 (2018): 15.