Gastrointestinal manifestations of systemic mastocytosis

摘要

Systemic mastocytosis (SM) is an uncommon neoplastic proliferation of mast cells involving single or multiple organs. The skin is most commonly involved, presenting as urticaria pigmentosa, followed by bone marrow involvement, which is the commonest extracutaneous. The gastrointestinal tract is reported to be involved in about 70-80% of cases of systemic mastocytosis. The pattern and extent of mucosal involvement and the histological appearance are now becoming clear as there is heightened awareness by clinicians of the possibility of the gastrointestinal tract being affected by the disease and increased endoscopic procedures. The symptoms appear non-specific with abdominal pain as the leading complaint followed by nausea, vomiting and diarrhoea. Cases of systemic mastocytosis are being diagnosed by mucosal biopsies with gastrointestinal involvement as the presenting pathology. A case of systemic mastocytosis is described diagnosed on gastrointestinal symptoms and endoscopic mucosal biopsies.