An unusual diagnosis for an acute abdominal pain

Case report:A 35-year-old man was referred to our clinic with fever,nausea, diarrhea and abdominal pain. We also found trombocytopeniaand macrocytic anemia with signs of intestinal malabsorption. Imagingstudies showed polyserositis and hepatosplenomegaly. Immuno- andinfectious-serological tests were negative as well as microbiologicalcultures. The clinical course was complicated by respiratory failure anddulling of the sensorium, abdominal pain, flushing of the skin and dif-fuse arthralgias. Blood tests showed hypercalcemia related to bonelytic lesions and worsening thrombocytopenia. Elevated levels of tryp-tase (6.250ng/ml) were recorded (upper limit 11 ng/ml). Bone mar-row biopsy confirmed the suspicion of Aggressive SystemicMastocytosis (ASM). The patient had dialysis for hypercalcemia andunderwent a cycle of chemotherapy, but he died for malignancy mul-tiorgan failure after 40 days. The autopsy confirmed multi-organ invol-vement coming from bowel and ASM diagnosis.Comments:Systemic mastocytosis (SM) is a heterogeneous diseasecharacterized by clonal proliferation of abnormal mast cell that collectin one or more extracutaneous organs (bone marrow, liver, spleen,lymph nodes, or gastrointestinal tract with or without cutaneous le-sions). World Health Organization defined six Subtypes of systemicmastocytosis according the sites of mast cell infiltrates, clinical pre-sentation and related prognosis. ASM subtype have poor prognosisand is often undiagnosed at the time of diagnosis. An high clinical su-spicion and tryptase test may accelerate the diagnosis.