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Portal venous thrombosis associated with JAK 2 mutation in pregnancy – case report

The portal vein is formed by the confluence of the splenic and superior mesenteric veins, which drain the spleen and the small intestine, respectively. The occlusion of the portal vein by thrombus (portal vein thrombosis [PVT]) usually occurs in patients with cirrhosis and/or prothrombotic disorders (DeLeve et al. 2009). As a result of PVT, portal hypertension and, consequently, splenomegaly occurs. The diagnosis of PVT in the gestational period is extremely uncommon, being reported only in isolated cases and case series. The presence of acute thrombosis in a patient with thrombophilia, especially with Janus Kinase 2 (JAK2) mutation, is an even rarer event in pregnancy. In a literature review based on PubMed, Scopus and Web of Science using the terms (Pregnancy) and JAK2 or Janus Kinase 2 and Portal Vein, we found cases of DVT in pregnancy, none related to the JAK2 mutation. We report a case of acute PVT in a 28-week pregnant woman with no history of previous thrombosis, diagnosed with JAK2 mutation.