An 83-year-old woman with worsening difficulty swallowing and weight loss was initially thought to have achalasia, a rare swallowing condition that affects the esophagus, but she was later found to have systemic mastocytosis (SM), according to a recent case report published in the Journal of Surgical Case Reports.
The patient, who had undergone esophageal surgery thirty years earlier, had recently been having trouble swallowing solids and liquids, and lost 10 pounds in the span of two months. Based on scan results, doctors suspected she had achalasia and performed a minimally invasive surgical procedure to treat it.
But during a follow-up endoscopy, biopsies from her stomach and duodenum revealed abnormal clusters of mast cells. These cells tested positive for CD117, tryptase and CD25 — markers of SM — and genetic testing confirmed the patient had the KIT D816V mutation typical of SM.
What is a mast cell?
Mast cells are specialized cells of the immune system that mediate inflammatory responses and allergic reactions. They are found in the body’s connective tissue.
Her diagnosis was revised to SM with gastrointestinal involvement. In this case, mast cells had infiltrated the esophagus, disrupting the normal function of the esophagus and mimicking achalasia.
Read more about SM testing and diagnosis
Up to 80% of people with SM have gastrointestinal symptoms, but these symptoms can easily be mistaken for more common conditions like achalasia, eosinophilic gastroenteritis or inflammatory bowel disease.
In this case, doctors missed SM at first because the patient didn’t have typical skin symptoms like itching and her scan results suggested a gastrointestinal disorder.
“The case emphasizes the importance of a multidisciplinary diagnostic approach combining endoscopy, histopathology, and molecular testing to distinguish SM from other gastrointestinal disorders,” the case report’s authors said. “Early recognition, along with tailored treatment strategies, is essential for improving patient outcomes in SM with gastrointestinal involvement.”
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