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How is mastocytosis diagnosed?

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Quick Answer

Doctors diagnose mastocytosis through a skin or bone marrow biopsy, according to the American Society of Clinical Oncology. Other tests, such as blood, urine and molecular tests, provide information about whether or not mastocytosis is probable, how far it has advanced, and which treatments are likely to be the most effective in its treatment.

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Full Answer

Mastocytosis is a condition in which the number of mast cells in the body increases abnormally, states the American Society of Clinical Oncology. Cutaneous mastocytosis affects the skin, and systemic mastocytosis affects the whole body. Symptoms vary depending on the precise type of mastocytosis, but general symptoms include hives or other rashes, gastrointestinal issues, fainting, breathing problems, and redness in the face. Sometimes the symptoms imitate an allergic reaction. Doctors use a skin biopsy to confirm suspected cutaneous mastocytosis and a bone marrow biopsy to confirm systemic mastocytosis.

Other useful tests for determining the extent of mastocytosis include measuring the amount of proteins associated with mast cells in a blood sample and checking for genetic mutations associated with mastocytosis, maintains Cleveland Clinic. Treatment for the condition depends on its location and whether or not the condition is cancerous. Medications treat the specific symptoms in each patient, while steroids and chemotherapy target cancerous versions of this condition.

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