Systemic mastocytosis with flushing and hypotension: A case report and literature review.

Abstract

Systemic mastocytosis (SM) is a heterogeneous disease of the bone marrow, which is characterized by the abnormal proliferation and infiltration of mast cells in one or more organs, such as the skin, bone marrow, digestive tract, liver and spleen. Urticaria pigmentosa is a typical but infrequent manifestation of SM. Other clinical presentations are non-specific, varying from pruritus and hypotension to multiple organ dysfunction, which may be lethal when hemodynamic changes occur, such as the sharp decline in blood pressure observed in the present case. In patients who lack skin lesions, the diagnosis of SM is frequently challenging. The present study reported on a 58-year-old male who presented with episodic flushing and syncope. The patient demonstrated marked neutrophilia and reduced blood potassium concentrations soon after the onset of each episode, which was able to last several hours, ranging from once to four times a year. SM without skin lesions was suspected and confirmed after multifocal bone marrow aspiration, which revealed dense infiltrates of mast cells (≥15 mast cells), with positive toluidine blue and CD117 staining. The present case illustrates the significance of taking SM or mast cell activation syndrome into consideration when unexplained recurrent hypotension or even syncope are observed, care should be taken to exclude differential diagnoses, as some of them may have much poorer prognoses and require alternative treatments.