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Systemic mastocytosis, what you need to know

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Systemic mastocytosis, what you need to know

Systemic Mastocytosis: Understanding a Rare Disease and its Treatment Options

The proliferation of mast cells, immune cells distributed in all levels of the border with the external environment, can affect the skin, intestine, or respiratory system, which have barrier functions.

Sometimes it seems like an annoying allergy, other times a rheumatic disease that attacks the internal organs. Mastocytosis is a pathology that is still partly unknown, relatively rare, and which fortunately today has a therapy that has marked a real change of direction compared to the past. We talk about it with Massimo Triggiani, president of European Competence Network on Mastocytosis (ECNM), professor of internal medicine at the University of Salerno.

Systemic mastocytosis is a very heterogeneous pathology linked to the proliferation of mast cells, immune cells distributed throughout the body at all levels of the border with the external environment. The disease manifests in different ways in children and adults, with symptoms such as skin lesions, itching, urticaria, flushing, gastrointestinal, and cardiovascular symptoms.

In Italy, it is estimated that there are approximately five thousand patients with mastocytosis, making it a rare disease. Diagnosis is obtained through the measurement of the tryptase enzyme and an osteo-medullary biopsy.

Recent advancements in diagnostic tests have led to an increase in diagnoses of systemic mastocytosis. Avapritinib, a targeted drug that inhibits the mutated KIT receptor present on mast cells, has shown efficacy in treating advanced forms of the disease. Clinical studies have demonstrated improvements in survival, hematological complications, and quality of life for patients.

Avapritinib is approved in Italy and reimbursed for advanced forms in adult patients, but not yet for indolent systemic mastocytosis. It is a promising development in the treatment of mastocytosis, offering new hope for patients with this rare and complex disease.

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