ArticleBMC gastroenterology2026
Masked polycythemia vera presenting as non-cirrhotic portal hypertension with isolated gastric varices: a case report.
Article in BMC gastroenterology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundMyeloproliferative neoplasms (MPN) are an uncommon but important cause of non-cirrhotic portal hypertension (NCPH) and may present with variceal bleeding rather than overt hematologic abnormalities. Diagnosis may be further delayed when polycythemia vera (PV) is masked by iron deficiency or prior venesection, resulting in non-elevated hemoglobin despite an underlying JAK2-positive neoplasm. We report a rare case of isolated gastric variceal bleeding as the presenting manifestation of presinusoidal NCPH in a patient with early myelofibrosis evolving from iron-deficient PV. CASE PRESENTATION: A 57-year-old man presented with intermittent rectal bleeding and melena. His history was notable for prior erythrocytosis managed with recurrent therapeutic venipunctures and superficial thrombophlebitis. Upper endoscopy revealed isolated gastric varices without esophageal varices. Abdominal computed tomography showed massive splenomegaly with dilated portal and splenic veins, a radiologically normal liver, and no portal or splenic vein thrombosis. Laboratory evaluation showed hemoglobin of 13.2 g/dL and normal liver chemistries. The patient underwent transjugular liver biopsy with concurrent hepatic venous pressure gradient (HVPG) measurement, which demonstrated a normal gradient of 5 mmHg, while histopathology revealed focal hepatic extramedullary erythropoiesis without cirrhosis. JAK2 V617F testing was positive. Peripheral blood smear and bone marrow biopsy showed leukoerythroblastosis, absent iron stores, panmyelosis, atypical megakaryocytic clustering, and grade 1-2 reticulin fibrosis, consistent with early myelofibrosis evolving from iron-deficient polycythemia vera.
conclusionsThis case highlights that masked MPN should be considered in patients with non-cirrhotic portal hypertension, massive splenomegaly, or variceal bleeding even when hemoglobin is normal at presentation. Early JAK2 testing and bone marrow evaluation are essential for diagnosis.
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