Description
Generalised mastocytosis (GM) is a rare haemopoietic stem cell disorder. We report a patient who presented with anaemia and thrombocytopenia and was found to have a mast cell infiltrate on bone marrow trephine biopsy associated with both myeloproliferative and myelodysplastic features. After six years she developed ascites with progressive liver failure. Nodular regenerative hyperplasia (NRH) associated with portal venopathy (PV) and veno-occlusive disease of the liver (VOD) was demonstrated on liver biopsy together with a diffuse mast cell infiltrate. The literature on hepatic manifestations of GM is reviewed. We conclude that cytochemical staining for mast cells should be considered in patients presenting with non-cirrhotic portal hypertension to exclude this diagnosis. In addition liver function tests should be regularly monitored in patients with GM to identify early, potentially reversible, hepatic complications.
