A CASE OF SYSTEMIC MASTOCYTOSIS IN A 72-YEAR OLD FEMALE PRESENTING WITH GASTROINTESTINAL BLEEDING

Abstract

<h3>Introduction</h3> Mastocytosis is a rare disorder that results from the clonal proliferation and accumulation of abnormal mast cells in the skin and extracutaneous organs such as the gastrointestinal tract and bone marrow. This disorder is estimated to have a prevalence of in 1 in 10,000 persons with a slight female predominance. <h3>Case Description</h3> This case report involves a 72-year old female previously diagnosed with cutaneous mastocytosis fifteen years prior who presented with hematochezia. The patient's skin lesions is described as non-pruritic multiple, flat, well-defined erythematous to hyperpigmented coalescing macules with a generalized distribution. Extensive work-up done including colonoscopy, bone marrow aspiration and biopsy of tissue samples revealed systemic progression. Colonic and bone marrow tissue samples revealed eosinophilia with CD117 positivity. Diagnosis was established to be aggressive systemic mastocytosis, and patient was started on Imatinib 400mg daily. <h3>Discussion</h3> In this case report, the major criterion and one minor criterion of the diagnostic criteria for systemic mastocytosis as established by the World Health Organization have been fulfilled. The presence of foci with more than 20 mast cells per high-power field on tissue samples obtained from the colon including bone marrow aspiration and core biopsy samples revealing CD117 positivity established the diagnosis. The diagnosis of systemic mastocytosis involving the gastrointestinal tract can be difficult due to the subtlety of the symptoms presented, hence a multidisciplinary approach and a high index of suspicion is needed for prompt diagnosis and treatment.