Systemic mastocytosis (SM) is a rare and complex disorder characterized by the abnormal proliferation and accumulation of mast cells in various tissues, including the skin, bone marrow, liver, spleen, and gastrointestinal tract.1 The condition presents a range of symptoms that can significantly impact a patient’s daily life, with varying severity depending on the stage of the disease. As physicians, understanding the nuanced challenges faced by patients with SM is essential for providing effective care and improving quality of life.2
Patients with SM often experience frequent, unpredictable symptoms due to mast cell degranulation, which releases mediators including histamine. Antihistamines are commonly used to manage skin symptoms, but patients may require additional treatment with mast cell stabilizers, leukotriene inhibitors, or tyrosine kinase inhibitors, especially if symptoms are more severe.
Gastrointestinal involvement is another hallmark of SM, as mast cell infiltration of the gut can lead to a range of symptoms, including nausea, diarrhea, bloating, and abdominal pain. This can severely affect patients’ dietary habits and nutritional intake. Managing gastrointestinal symptoms often requires dietary modifications, as well as pharmacological interventions, such as proton pump inhibitors (PPIs) or H2 antagonists, to control acid secretion and reduce symptoms.
For patients with advanced systemic mastocytosis (AdvSM), such as aggressive systemic mastocytosis (ASM) or mast cell leukemia (MCL), the disease can progress to cause significant organ dysfunction. Symptoms may include hepatosplenomegaly, anemia, thrombocytopenia, and leukopenia.3 Advanced forms of SM are associated with a poor prognosis and require more aggressive treatment strategies, such as chemotherapy or targeted therapies, including novel agents like AYVAKIT, which has shown promise in improving outcomes.4
Managing SM requires a comprehensive, multidisciplinary approach, including symptom control, regular monitoring, and addressing both physical and emotional challenges. Patient education about potential triggers, medication adherence, and early recognition of symptoms is key to improving long-term outcomes and quality of life. Validated screening tools, such as the Advanced Systemic Mastocytosis Symptom Assessment Form (AdvSM-SAF) exist to monitor patient symptoms and experiences over time.5 As the landscape of SM treatment continues to evolve, timely intervention and personalized care are crucial to optimizing patient outcomes.
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