Monitoring of gastrointestinal (GI) health is essential for patients with systemic mastocytosis (SM) to prevent serious complications, including cancer, according to an article published in The American Journal of Gastroenterology.
What is SM?
Systemic mastocytosis (SM) is a rare hematological disease characterized by mast cells that are overactive and accumulate in different parts of the body such as the bone marrow, liver, spleen, gastrointestinal tract and lymph nodes.
SM causes an accumulation of mast cells in organs such as the GI tract and can cause a range of symptoms that significantly affect daily life. While SM’s GI effects are common, they can be difficult to manage and may also increase the risk of complications such as colon cancer, highlighting the importance of regular screenings and tailored care tailored tofor patients living with SM.
Read more about SM signs and symptoms
SM can lead to diverse and often disruptive GI symptoms, including cramping, diarrhea and malabsorption. In one case, a 77-year-old man initially presented with unexplained abdominal discomfort and frequent diarrhea, which eventually led to a diagnosis of SM in 2015.
Biopsies taken during an endoscopy showed dense clusters of mast cells and other immune cells in the GI tract, confirming the diagnosis. Although a low-histamine diet and antihistamines such as fexofenadine helped control his symptoms, they later returned, suggesting that GI issues in SM can be persistent and may require ongoing attention and adjustments in care.
The role of gastroenterologists in diagnosing SM is vital: Nearly 67% of SM cases with GI involvement were identified through GI biopsies. These findings often revealed mast cell infiltration and other immune markers that pointed to SM, making it crucial for patients with unexplained GI symptoms to undergo endoscopic evaluation when other causes are ruled out.
Once diagnosed, patients may need dietary changes and medications to help manage the GI effects of SM, as in the case of the patient’s initial response to treatment.
Interestingly, there may also be a link between SM and a heightened risk for developing GI cancers, possibly due to chronic inflammation caused by the constant presence of mast cells. In this case, the patient developed multiple colon polyps over time, some of which showed high-grade dysplasia—a sign that the polyps could potentially become cancerous. Although no direct causal link has been established between SM and colon cancer, chronic inflammation and tissue changes may contribute to an elevated risk.
Given these risks, patients with SM might benefit from more frequent screening for colon cancer. Although formal guidelines are currently lacking, this case suggested that patients with SM, especially those with poorly controlled disease, could consider proactive screenings to catch potential issues early.
For individuals living with SM, managing GI symptoms and maintaining regular screenings can improve their quality of life and potentially lower the risk of severe GI complications. This case underscored the need for both vigilant GI care and individualized treatment to support long-term health in patients with SM.
“There are currently no formal guidelines regarding increased colon cancer screening for patients with systemic mastocytosis,” study authors said. “Based on our case, we recommend increased vigilance and attention to detail with regard to screening for colon cancer in patients with systemic mastocytosis particularly if disease remains poorly controlled.”
