A recent study published in Journal of Allergy and Clinical Immunology: Global delves into the symptoms patients with systemic mastocytosis (SM) experience in the year prior to diagnosis and the year after, highlighting the need for greater awareness of real-world symptoms to reduce delays in diagnosis.
Because SM symptoms are common and overlap with many other conditions, patients are frequently misdiagnosed or go undiagnosed for years. “For example, gastrointestinal complaints are frequently dismissed as minor or attributed to stress or anxiety rather than to SM,” the study’s authors said.
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To better understand symptoms that could lead to earlier diagnosis, the authors studied the medical records of 75 confirmed SM patients from a large integrated health system. They compared these records with those of two other groups: 150 patients with chronic spontaneous urticaria (a skin condition causing hives) and 150 people without either condition. All three groups were matched by age, sex and time period. The researchers tracked physician notes, laboratory results, medication use, and symptoms in the year before and the year after the SM diagnosis.
Compared with both comparison groups, SM patients had significantly higher rates of stomach and digestive symptoms, including abdominal pain, bloating, and diarrhea, as well as brain-related symptoms such as difficulty concentrating, anxiety and insomnia, both before and after diagnosis.
Patients with SM were also more likely to have osteoporosis, anemia and elevated levels of tryptase, which signals mast cell activity. The authors noted that many of these symptoms did not improve after the diagnosis was made and treatment had begun.
Patients with a less severe form of the disease tended to have more skin and mental health-related symptoms, while those with more advanced disease had greater digestive and blood-related problems.
Certain medications were also used more by patients with SM. Around 7% of those with SM were prescribed cromolyn sodium (a mast cell stabilizer) before diagnosis, while none of the patients in either comparison group were. Patients with SM were also significantly more likely to carry an an EpiPen due to the risk of severe allergic reactions.
“Our findings underscore the need for more inclusive diagnostic approaches and improved management strategies that address the full spectrum of patient experience before and after diagnosis,” the authors concluded.
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