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A myeloproliferative disorder is the main risk factor for portal venous thrombosis or Budd-Chiari syndrome. Other significant factors are hereditary or acquired prothrombotic states and different liver diseases. Approximately 25% of thromboses occur without an indication of possible etiology. However, some patients show signs of myeloproliferative disorders on bone marrow morphology. The identification of the Janus kinase V617F mutation, which was first described in 2005, allows new insights into both the pathobiochemistry and pathophysiology of this disease, and a substantial improvement of the diagnostics at least to some of the myeloproliferative disorders. A retrospective study of clinical trials of patients with Budd-Chiari syndrome or portal venous thrombosis showed that patients with thrombosis predefined as idiopathic carried the V617F mutation at a high percentage rate and, furthermore, that a part of this patients group developed a myeloproliferative disorder after the thrombotic event.

Budd-Chiari syndrome and portal venous thrombosis – relevance of the JAK2 mutation as new risk marker 1