Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review

Mastocytosis is a rare process involving the activation and accumulation of clonal mast cells categorized by cutaneous or systemic involvement. Although the diagnosis of cutaneous disease can be straightforward and confirmed via skin biopsy, systemic disease mimics more common disease processes making diagnosis a challenge. The widespread physiologic distribution of mast cells causes a variety of symptoms with aberrant expression including fatigue, headache, depression, dyspnea, dyspepsia, nausea, and abdominal pain. We present a patient with a three-year history of multiple, non-specific complaints prompting extensive evaluation at significant financial and emotional cost without therapeutic relief. This case presentation illustrates some of the pitfalls of evaluation and management of mastocytosis when symptoms are treated in isolation. Ultimately, our patient was diagnosed with indolent systemic mastocytosis (ISM), which has a good overall prognosis but no curative treatment. Providers must maintain a high index of suspicion for mastocytosis in order to make the diagnosis and facilitate appropriate treatment and screening.