Aggressive systemic mastocytosis (ASM) is a clonal mast cell disease characterized by progressive growth of neoplastic cells in diverse organs leading to organopathy. The organ-systems most frequently affected are the bone marrow, skeletal system, liver, spleen, and the gastrointestinal tract.

Systemic mastocytosis (mas-to-sy-TOE-sis) is a disorder that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine and leukotrienes.

But if you have systemic mastocytosis, excess mast cells generally build up in your skin, bone marrow, gastrointestinal tract and bones. When triggered, these mast cells release substances that can overwhelm your body and result in signs and symptoms such as facial flushing, itching, a rapid heartbeat, abdominal cramps, lightheadedness or even loss of consciousness. Common triggers include alcohol, temperature changes, spicy foods and certain medications.

Several types of systemic mastocytosis exist. The most common form — indolent systemic mastocytosis — progresses slowly.

The second most common form is systemic mastocytosis associated with a second blood disorder. Another type, aggressive systemic mastocytosis, develops rapidly and is often associated with organ damage. Mast cell leukemia and mast cell sarcoma are extremely rare forms of systemic mastocytosis.

Symptoms

Symptoms of systemic mastocytosis include facial flushing, itching, or belly cramps. Other symptoms include feeling lightheaded or losing consciousness. Common triggers include alcohol, temperature changes, spicy foods, and certain medications.

Diagnosis

Your doctor may diagnose systemic mastocytosis through blood or urine tests or imaging tests like X-rays, ultrasounds, and CT scans. You may need a test to collect a sample of bone marrow to study in a lab. These tests look for high levels of mast cells or the substances they release.

Treatment

Treatment for systemic mastocytosis may include medications like antihistamines, aspirin, and drugs that work against the substances released by mast cells in your body. If you have a severe allergic reaction, you may need an injection of epinephrine. Aggressive forms of systemic mastocytosis may need powerful chemotherapy drugs to destroy mast cells.

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