Goals: We aimed to present our long-term surveillance experience in patients with Budd-Chiari syndrome (BCS), and we retrospectively evaluated the natural history, results of thrombophilia studies, and the factors related to mortality.
Background: Primary BCS is a rare form of vascular disease, secondary to underlying thrombophilia. Because of its rarity and heterogeneous nature, there is a scarcity of knowledge about the natural history of the disease.
Study and Results: In 22 years, a total of 62 patients with primary BCS were followed in our tertiary hospital. We identified an acquired cause of BCS in 40 out of 62 patients (64.5%), whereas in 6 patients (9.7%), we found no identifiable cause. One or more thrombophilia causes were identified in 56 patients (90.3%). In 19 patients with myeloproliferative disease, 15 had Janus tyrosine kinase 2 mutation analysis and Janus tyrosine kinase 2 positivity was found in 10 patients. In regression analysis, portal vein thrombosis was found to be the only indicator of mortality, with an estimated instantaneous risk of 8.4.
Conclusions: In this study, we present one of the largest series of BCS in the English literature. We have shown that the multifactorial nature of underlying thrombophilia should be thoroughly investigated. In a patient with BCS, a clinician should be alert for the development or coexistence of portal vein thrombosis due to its deleterious effect on mortality.
Departments of *Gastroenterology
§Pathology, Hacettepe University School of Medicine, Ankara, Turkey
Declaration of Funding Source: Nothing to declare.
The authors declare that they have nothing to disclose.
Reprints: Ozgur Harmanci, MD, Department of Gastroenterology, Hacettepe University School of Medicine, Sihhiye, 06100 Ankara, Turkey (e-mail: email@example.com).
Received July 10, 2011
Accepted February 13, 2012