Prevalence of the JAK2V617F mutation in Chinese patients with Budd-Chiari syndrome and portal vein thrombosis: a prospective study

Background and aim: Whether routine screening for the JAK2V617F mutation should be performed in Chinese patients with Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) is unclear. Therefore, we aimed to evaluate the prevalence of the JAK2V617F mutation in such patients and to explore the risk factors associated with the mutation.

Methods: All consecutive patients with BCS and PVT diagnosed between September 2009 and May 2011 were prospectively enrolled in the observational study and underwent the JAK2V617F mutation detection.

Results: Prevalence of the JAK2V617F mutation was 4.3% (4/92) in patients with primary BCS, 26.6% (17/64) in non-malignant and non-cirrhotic patients with PVT, and 1.4% (1/71) in cirrhotic patients with PVT. All BCS patients with the JAK2V617F mutation had both platelet count (PLT) of above 100 × 10(9) /L (range, 107-188 × 10(9) /L) and splenomegaly. In non-malignant and non-cirrhotic patients with PVT, higher PLT and older ages were the independent predictors of the JAK2V617F mutation. Further, the difference in PLT between the patients with and without the mutation displayed greater significance in the subgroup of patients with splenomegaly (P < 0.0001), but the statistical significance disappeared in the subgroup of patients with splenectomy (P = 0.1312).

Conclusions: The low prevalence of the JAK2V617F mutation in patients with BCS suggests that myeloproliferative neoplasm should be an uncommon etiological factor of BCS in China. Routine screening for the JAK2V617F mutation might be recommended in non-malignant and non-cirrhotic patients with PVT, but not in cirrhotic patients with PVT. The coexistence of higher PLT and splenomegaly might be closely associated with the JAK2V617F mutation.