Systemic Mastocytosis Initially Presenting as an Obstructive Small Intestine Mass: Case Report and Review of the Literature

Abstract

Systemic Mastocytosis (SM) belongs to a family of rare hematologic disorders in which there is an overproduction of mast cells in tissues, causing various symptoms varying from self-limiting to life-threatening. This report illustrates common clinical features, treatment options, and aggressive SM (ASM) consequences. A 68-year-old female patient with intestinal obstruction. A laparotomy was performed, and the mass was excised with segmental resection of the small intestine. Systemic Mastocytosis was suspected on microscopic examination, and a bone marrow (BM) biopsy and aspiration were performed. Immunohistochemistry studies (IHC) and molecular analyses complemented the microscopic examination and confirmed the diagnosis of ASM. Although chemotherapy was provided, it was discontinued due to severe side effects. The patient expired five months after her diagnosis. The path to such a rapid progression of the disease is stark and, apart from the course of events, has several distinctive clinical features, including the initial presentation of what appeared to be a gastrointestinal condition of a benign nature - highlighting the need for differential diagnostic procedures. These important observations highlight the urgent need for clinicians to be aware of systemic Mastocytosis, especially if the entity is aggressive, and a diagnosis should be made as soon as possible. This case exemplifies the management difficulties in handling this condition and the potential for misdiagnosis where intervention can differ. We encourage future research to focus on improving diagnostic protocols and evaluating novel therapeutic approaches for aggressive systemic Mastocytosis.