Case report: Primary myelofibrosis presenting with portal hypertension mimicking cirrhosis

Area of Science:

• Hematology
• Gastroenterology
• Hepatology

Background:

• Primary myelofibrosis (PMF) is a rare cause of noncirrhotic portal hypertension (PH).
• Noncirrhotic PH is frequently misdiagnosed as cirrhotic PH in clinical practice.
• Esophageal variceal hemorrhage is a serious complication of portal hypertension.

Observation:

• A patient presented with recurrent esophageal variceal hemorrhage, initially diagnosed with cirrhosis.
• The patient was evaluated for liver transplantation.
• Liver biopsy revealed extramedullary hematopoiesis (EMH) but no significant cirrhosis.

Findings:

• The patient was accurately diagnosed with Primary myelofibrosis (PMF).
• Standard PMF treatment was initiated.
• The patient experienced no recurrent gastrointestinal hemorrhage from esophageal varices for nearly three years.

Implications:

• Highlights the importance of considering PMF in noncirrhotic PH with EMH.
• Emphasizes the need for accurate diagnosis to guide appropriate treatment and avoid unnecessary procedures like liver transplantation.
• Suggests effective management strategies for PMF-related portal hypertension and its complications.