Published online May 26, 2024. doi: 10.12998/wjcc.v12.i15.2621
Revised: February 10, 2024
Accepted: April 7, 2024
Published online: May 26, 2024
Processing time: 113 Days and 18.6 Hours
Acute upper gastrointestinal bleeding is a common medical emergency that has a 10% hospital mortality rate. According to the etiology, this disease can be divided into acute varicose veins and nonvaricose veins. Bleeding from esophageal varices is a life-threatening complication of portal hypertension. Portal hypertension is a clinical syndrome defined as a portal venous pressure that exceeds 10 mmHg. Cirrhosis is the most common cause of portal hypertension, and thrombosis of the portal system not associated with liver cirrhosis is the second most common cause of portal hypertension in the Western world. Primary myeloproliferative disorders are the main cause of portal venous thrombosis, and somatic mutations in the Janus kinase 2 gene (JAK2 V617F) can be found in approximately 90% of polycythemia vera, 50% of essential thrombocyrosis and 50% of primary myelofibrosis.
We present a rare case of primary myelofibrosis with gastrointestinal bleeding as the primary manifestation that presented as portal-superior-splenic mesenteric vein thrombosis. Peripheral blood tests revealed the presence of the JAK2 V617F mutation. Bone marrow biopsy ultimately confirmed the diagnosis of myelo
In patients with acute esophageal variceal bleeding due to portal hypertension and vein thrombosis without cirrhosis, the possibility of myeloproliferative neoplasms should be considered, and the JAK2 mutation test should be performed.
Core Tip: Emergency physicians often encounter patients with acute esophageal variceal bleeding and portal vein thrombosis. We hope that this case report can increase the awareness that in patients who present with variceal bleeding without liver cirrhosis, myeloproliferative neoplasms such as myelofibrosis with the JAK2 V617F mutant, can be identified and treated early to minimize the consequences and avoid bleeding.