Case Report: Primary myelofibrosis presenting with non-cirrhotic portal hypertension and initially misdiagnosed as cirrhosis

Vollständiger Abstract

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Primary myelofibrosis (PMF) is a rare cause of non-cirrhotic portal hypertension (NCPH). Because the clinical manifestations of NCPH often resemble those of cirrhosis-related portal hypertension, it is frequently misdiagnosed as cirrhosis in clinical practice. Herein, we report the case of a patient who presented with long-standing fatigue, progressive anemia, splenomegaly, and manifestations of portal hypertension, and was initially considered to have cirrhosis-related portal hypertension; a subsequent hematologic evaluation established the diagnosis of PMF. The patient then received standard ruxolitinib-based therapy, with improvement in spleen size and related symptoms. This case highlights that when the degree of liver injury is discordant with the severity of portal hypertension, particularly in the presence of hematologic abnormalities that cannot be fully explained by hypersplenism, potential underlying hematologic causes should be actively investigated.