JAK2V617F and prothrombin G20210A gene mutations in a patient with Budd-Chiari syndrome and essential thrombocythemia.

Myeloproliferative disorders and the inherited thrombophilias have been described as the main causes underlying the Budd-Chiari syndrome. Moreover, the presence of the JAK2V617F was associated with a higher frequency of Budd-Chiari syndrome in patients who have overt or even latent myeloproliferative disorder. We herein describe a 28-year-old woman who was diagnosed with Budd-Chiari syndrome and later developed an overt myeloproliferative disorder. The patient was found to carry both the JAK2V617F and the prothrombin G20210A mutation in the heterozygous form. The significance of the chronology of diagnosis is highlighted.