Vnitr Lek 2024, 70(4):224-232

Systemic mastocytosis - a common diagnosis for allergists and hematologists

Marie Žemličková1, Tomáš Kozák2
1 Laboratoř genomické medicíny, FN Královské Vinohrady, Praha
2 Hematologická klinika 3. LF UK a FN Královské Vinohrady, Praha

Systemic mastocytosis (SM) is a disease characterized by the proliferation of clonal mast cells. SM biologically include a wide spectrum, ranging from relatively benign indolent forms to mast cell leukemia. The clinical presentation varies from nearly asymptomatic forms, through various degrees of mediator syndrome, to a neoplastic syndrome associated with hepatosplenomegaly, lymphadenopathy, and constitutional symptoms. Diagnosis relies on morphological and histological evaluation of the bone marrow. Patients are classified based on diagnostic findings and symptomatology according to the WHO and ICC classifications, which determine the type of disease and subsequent therapy, which is strictly individualized and includes symptomatic, targeted, and cytoreductive therapy. Given the wide spectrum of symptoms, patients with SM may visit specialists in most internal medicine departments in addition to hematologists and allergologists. Raising awareness of this diagnosis within the medical community is crucial. Low awareness leads to delayed diagnosis and undertreatment, posing risks of life-threatening situations in patients liable to severe allergic reactions.

Keywords: mastocytosis, KIT gene, serum tryptase.

Accepted: June 5, 2024; Published: June 20, 2024  Show citation

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Žemličková M, Kozák T. Systemic mastocytosis - a common diagnosis for allergists and hematologists. Vnitr Lek. 2024;70(4):224-232.
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