Although systemic mastocytosis (SM) diagnoses are becoming more common, specialists in these disciplines appear to not have a good awareness of the disease, according to a recently published study in the International Journal of Hematology and Oncology.
SM is considered a rare disease with an incidence of 13 in every 100.000 individuals. The disease is characterized by florid clinical manifestations that can impact multiple organ systems. Common symptoms include skin rash, diarrhea, constipation, headaches, vertigo, bone loss, and depression.
Therefore, SM diagnosis is a challenging one. Patients often undergo several consults with different disciplines before obtaining a diagnosis.
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“The patients are usually seen by many disciplines, including allergy/immunology, hematology/oncology, family medicine, internal medicine, endocrinology, gastroenterology, neurology, cardiology and dermatology because of complexity and variety of symptoms and signs,” the authors wrote.
The authors aimed to assess the incidence of specific symptoms and the characteristics of different SM subtypes at Ege University, Turkey, between 2009 and 2020. The study included 22 patients with SM.
Researchers observed that the median time between symptom onset and diagnosis was three years, representing a significant diagnostic delay. Skin symptoms were the most common initial manifestation.
Three patients had gastric symptoms, and 12 had increased liver and spleen size. Approximately 60% of patients had at least one neurological symptom. The most common gastric symptoms were weight loss and upper abdomen discomfort; neurological symptoms included headaches, cognitive impairment, and memory difficulties.
“In conclusion, the awareness of SM is very good in allergy and hematology disciplines, but other disciplines where more ISM likely be seen (gastroenterology, dermatology, neurology, cardiology) require more attention to this orphan disease,” the authors wrote.”We believe that if its recognition is increased, diagnosis of SM from our country will be improved and symptoms affecting the other organs especially nervous system will be evaluated more carefully by neurologists,”.
