Mastocytosis for Annals of Gastro
Abstract:
Mastocytosis is a rare and heterogeneous group of diseases with the presence of dense mast cells infiltrates in various tissues being the common element. The gastrointestinal (GI) tract is frequently affected with vague and subtle manifestations making the diagnosis of GI mastocytosis rather formidable and challenging. The diagnosis of the disease requires a high level of clinical suspicion and index of familiarity. This report demonstrates a rare case of indolent systemic mastocytosis (SM) initially misdiagnosed as Crohn’s disease (CD), but after proper and in-depth investigations the correct diagnosis was established. SM should therefore be considered in the differential diagnosis in patients presenting with abdominal manifestations that cannot be otherwise explained or attributed to common GI pathologies and in cases the patient’s trajectory does not follow the expected course. More research is needed regarding the epidemiology and the non-classical presentation of SM to increase the awareness about the disease in the medical community.