Case report: Routine colonoscopy helped diagnose a patient with SM

Routine screening tests, such as a colonoscopy, can help diagnose rare disorders like SM.

A patient was incidentally diagnosed with indolent systemic mastocytosis (SM) following suspicious findings from a colon polyp biopsy, according to a case report recently published in the Annals of Internal Medicine Clinical Cases. 

“This case raises awareness about MC disorders. Though rare, one should always keep these disorders in mind while evaluating a patient with nonspecific signs and symptoms involving multiple organ systems,” the authors of the case report wrote. 

The case report describes a 57-year-old woman who underwent a routine screening for colon cancer with a colonoscopy, which uses a flexible scope that allows doctors to visualize the interior of the gut. During this procedure, doctors found a growth known as a polyp, which was removed and sent for biopsy. This revealed infiltration of atypical CD-25-positive mast cells.

As a result of these findings, doctors requested a bone marrow biopsy. This revealed that there was less than 1% of mast cells in her bone marrow. Flow cytometry, which is used to analyze cells in detail, found CD34, CD117 and tryptase expression on these rare mast cells. The patient was diagnosed with indolent SM.

Read more about SM testing and diagnosis 

Four months later, the patient visited an allergy clinic for further care. She reported she had experienced intermittent dizziness and fatigue over the past year; furthermore, she had occasional skin flushing and described feeling a “funny” sensation after eating shrimp that did not amount to a full allergic reaction. She also described symptoms that were consistent with an allergy to cats. 

Upon presentation to the allergy clinic, doctors found enlarged lymph nodes, liver and spleen. Her serum tryptase was within normal levels (6.9 ng/mL).

The patient’s doctors advised her to avoid triggers of mast cell degranulation, which may include stress, extreme temperatures and intense exercise. She was also advised to avoid certain medications, such as aspirin and nonsteroidal anti-inflammatory drugs. The patient was given the antihistamine cetirizine at a dose of 10 mg daily. She continued to be on routine follow-up. 

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