Review Highlights Features, Treatment of Budd-Chiari Syndrome in MPNs

Researchers outlined available data on Budd-Chiari syndrome (BCS) in Philadelphia-negative myeloproliferative neoplasms (MPNs) in a new review published in World Journal of Clinical Oncology.

Although both conditions are rare, BCS can develop in the setting of MPNs.

“In this patient population, individualized, distinctive counseling and multidisciplinary surveillance and treatment strategies are crucial in achieving better possible outcomes,” the study authors wrote. “Individuals with MPNs should be managed in accordance with the most recent guidelines to avoid the occurrence of BCS, whereas a diagnosis of BCS should warrant an active search for the potential diagnosis of MPNs.”

MPNs are clonal disorders of the hematopoietic stem cell that result in an exaggerated production of terminally differentiated myeloid cells. Philadelphia-negative MPNs include polycythemia vera, essential thrombocytopenia, and primary myelofibrosis. These can all lead to thrombotic complications such as BCS.

“BCS is a heterogeneous group of disorders characterized by hepatic venous outflow tract obstruction, ranging from the small hepatic veins, the 3 suprahepatic veins, and all the way to the junction of the inferior vena cava and right atrium,” the authors explained.

Because it is so rare, limited data exist on the condition. One recent meta-analysis estimated a prevalence of 11 cases per 1 million people. These investigations were carried out mainly in Asia and Europe. Another study from France found the median age of patients with primary BCS was 47 years; around 70% of patients in that study were female. Oral contraceptive use and pregnancy are gender-specific risk factors for BCS.

BCS can also be characterized as thrombotic or nonthrombotic, while thrombotic obstruction (primary BCS) is the most common cause of the condition. BCS can also be classified based on site of obstruction and onset of disease pathology.

Thrombophilia, thalassemia, paroxysmal nocturnal hemoglobinuria, MPNs, pregnancy, oral contraceptive use, and inflammatory conditions like Behcet’s disease, celiac disease, and ulcerative colitis are all associated with primary BCS. However, MPNs are the most common cause of BCS, with prevalence in the BCS setting ranging from 33% to 50%. One meta-analysis found polycythemia vera was the most common MPN to be diagnosed in the BCS setting.

To the authors’ knowledge, “there is no literature on variation of the histopathological patterns in BCS secondary to MPNs. Moreover, a prognostic grading system for the same also does not exist and is a potential area for further studies.”

Around 20% of individuals with BCS have little to no symptoms at all. Acute BCS has a short onset duration of within 1 month, and the onset of subacute BCS ranges from 1 to 6 months.

Some data also suggest geographical differences in the incidence of various BCS types based on onset pathology.

“In the eastern geographic regions, chronic presentations are more prevalent, with onset ranging from 6 months to 30 years. In the western geographic region, acute presentation is encountered relatively more frequently,” the researchers explained.

For BCS due to MPNs, anticoagulation therapy serves as the first line of treatment so as to relieve any obstruction. Once a diagnosis is established, antiplatelet therapy should also begin as soon as possible, the authors said.

But because only 15% to 20% of patients will respond to anticoagulation, other interventions may be needed in the majority of cases. In acute or subacute BCS in MPNs, one management option could be angioplasty and stenting, although this intervention is typically reserved for symptomatic patients.

Reference

Găman M, Cozma M, Manan MR, et al. Budd-Chiari syndrome in myeloproliferative neoplasms: a review of literature. World J Clin Oncol. Published online March 24, 2023. doi:10.5306/wjco.v14.i3.99