Deep venous thrombosis (DVT) is a complication of myeloproliferative neoplasms (MPNs). However, DVTs in unusual sites such as portal vein thrombosis (PVT) are rare and may be the first clinical manifestation of occult MPNs. There is a need for increasing awareness of such manifestations; so, here we discuss a patient who presented with new portal vein thrombosis, underwent further studies, was ultimately diagnosed with JAK2 positive MPN, and started on appropriate treatment with improvement of thrombosis and controlled hematocrit.
MPNs constitute a group of clonal hematologic malignancies that are Philadelphia chromosome-negative. According to the 2016 World Health Organization (WHO) criteria, polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF) represent the primary types of MPNs, which usually manifest with constitutional symptoms such as night sweats and abdominal discomfort from splenomegaly and are frequently associated with lab abnormalities, including erythrocytosis, leukocytosis, or thrombocytosis.
Genetic studies have revealed the presence of specific mutations associated with MPNs, namely JAK2, CALR , and MPL , which lead to clonal hematopoiesis. Thrombosis is a well-known complication and rare thrombosis in unusual locations have been reported. Current modality of treatment including prevention and management of thrombosis. In this case report, we discuss a patient who presented with extensive portal vein thrombosis and was diagnosed with PV. We hope this presentation will help raise awareness about DVTs in unusual anatomic sites such as portal vein thrombosis as the presenting manifestation of JAK2 positive MPNs.