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Systemic Mastocytosis / Mast Cell Disease

Systemic mastocytosis or mast cell disease is a disorder that results from the overproduction of mast cells (a type of white blood cell), in the bone marrow.

These cells accumulate in the blood, lymph nodes (glands), skin and other body tissues. Excess numbers of mast cells release large amounts of histamine and other substances which can cause allergic type reactions in affected tissues.

For example, when these substances collect in the skin they tend to cause an itchy rash. Other allergic type symptoms may include abdominal pain and difficulty breathing. Over 90% of patients with systemic mastocytosis carry a mutation in the c-KIT gene.

Medications known as antihistamines are used to prevent and reduce allergic reactions. Treatment decisions tend to be made on an individual basis and may include chemotherapy in tablet form and / or interferon to help control the overproduction of mast cells in the bone marrow.

Research indicates new tyrosine kinase inhibitors may also be useful as a treatment therapy in some people.