Two case reports published in ACG Case Reports Journal show how long-lasting gastrointestinal problems that don’t improve with the usual treatments can be a sign of systemic mastocytosis (SM), especially when they occur alongside skin or bone problems.
The case reports describe two women, ages 67 and 64. Both women had experienced gastrointestinal symptoms for well over a decade.
The first woman had nausea, vomiting, belly pain, bloating and occasional diarrhea, often triggered by alcohol, processed foods or certain pain pills. A severe episode that occurred after she ate processed bread prompted a new look into her symptoms.
The second woman’s gastrointestinal symptoms had been blamed on Crohn’s disease, a type of inflammatory bowel disease. She had watery diarrhea up to 16 times a day, weight loss and fatigue, among other symptoms.
Both women also had itchy skin and weak bones (osteoporosis), which were at first thought to be unrelated to their gastrointestinal issues.
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In both women, blood tests showed that tryptaseTryptase A protein enzyme that is primarily produced by mast cells and stored in small pockets within the cells, known as granules. High levels of tryptase are a key indicator of SM., a substance released by mast cells, was high. Genetic testing found they both had the KIT D816V mutation, the cause of most cases of SM. Biopsies (tissue samples) from their intestines showed large numbers of mast cells, and samples from their bones also showed clusters of mast cells. Both were diagnosed with SM.
Learn more: “How does systemic mastocytosis affect the digestive system?“
The authors said a key lesson from these case reports is the importance of looking for signs of SM when gastrointestinal symptoms are unusual or don’t get better with treatment, as was the case with these patients. “These cases highlight the importance of considering systemic mastocytosisMastocytosis Rare disease caused by the buildup of mast cells. Cutaneous mastocytosis primarily affects the skin and is more common in children, while systemic mastocytosis affects internal organs and is more common in adults. in refractory or atypical gastrointestinal disease, particularly when accompanied by skin or skeletal findings,” they noted.
The authors said such cases should prompt testing that includes blood tryptase, a genetic test and tissue samples from many areas in the gut, because signs of SM may be more present in some areas than others.
