Systemic Mastocytosis as an Unconventional Cause of Variceal Bleeding: Think Outside the Box

Abstract

Systemic mastocytosis is a rare infiltrative disease involving the skin, bone marrow, digestive system, and liver. We report a case of a 59-year-old male who presented with a massive variceal bleed without any evidence of cirrhosis; however was later found to have severe perisinusoidal fibrosis with mast cells in portal tracts on liver biopsy and hypercellular mast cell infiltrated bone marrow. This rare case describes an out-of-the-ordinary reason of variceal bleeding with preserved liver function due to non-cirrhotic portal hypertension.

Effects of Primary Mast Cell Disease on Hemostasis and Erythropoiesis

“…Clinical signs of a bleeding diathesis, such as hematoma formation, bruising, prolonged bleeding after biopsies, gingival bleeding, epistaxis, gastrointestinal hemorrhage, conjunctival hemorrhage, menorrhagia or hemorrhagic ulcer disease occur in about 50% of patients with MC disease ( [7,19]; further references therein) and can contribute to deterioration in quality of life. Thus, bleeding diathesis represents a frequent and clinically relevant problem in MC disease, although severe or fatal bleeding seems to be rare [20][21][22][23]. The presence of hemorrhagic disorders in patients with MC disease is mainly explained by the anticoagulant activity of MC degranulation products like heparin, histamine and tryptase [24] and by hyperfibrinolysis [17].…”