Systemic Mastocytosis Presenting as Non-cirrhotic Portal Hypertension With Upper Gastrointestinal Bleeding in a Young Female Patient: A Case Report

Systemic mastocytosis is a rare clonal disease that leads to the abnormal growth and accumulation of mast cells in different organs. Clinical presentation varies from indolent disease to aggressive multiorgan involvement. Portal hypertension due to hepatic infiltration is not common, and this presentation with upper gastrointestinal bleeding is extremely rare, especially in young patients. We present a case report of a 21-year-old female with melena, generalized weakness, and dizziness. On examination, massive splenomegaly was noted. Laboratory tests revealed pancytopenia, and ultrasonography and contrast-enhanced CT of the abdomen revealed features of portal hypertension without cirrhosis. Upper gastrointestinal endoscopy showed esophageal varices. Systemic mastocytosis was diagnosed by bone marrow examination, which revealed dense aggregates of abnormal spindle-shaped mast cells, followed by immunohistochemistry of the samples, which were positive for CD117 and CD25. Management of the patient included supportive care such as blood transfusions and endoscopic therapy for variceal bleeding. This case demonstrates a very rare and severe manifestation of systemic mastocytosis in a young patient, and highlights the importance of considering infiltrative hematological disorders in non-cirrhotic portal hypertension presenting with unexplained cytopenias.