What Are Mast Cell Diseases?

Mast cells play an important role in our health. These tissue-based immune cells live in every organ in our body. Mast cells act as sentinels for the immune system. They are armed to recognize and respond to foreign invaders, such as a virus or an allergen. The sentinels counterattack with powerful chemical mediators that seek to repair tissue after the harm is contained.

When these mast cells start to increase in number or release chemical mediators at the wrong time, it can result in mast cell disease.

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Mast cell diseases are caused by abnormal and/or overly active mast cells. Some people are born with a mast cell disease. Others may get it in childhood or adulthood. Mast cell diseases are rare, but they are increasingly recognized and diagnosed by doctors. The most common are mastocytosis, mast cell activation syndrome (MCAS) and hereditary alpha-tryptasemia syndrome (HαT).

Common symptoms of mast cell diseases include skin rashes, unexplained flushing, stomach pain, gastrointestinal tract problems, nausea, bloating and bone or joint pain. People with mast cell diseases might suddenly feel hot, even in a normal-temperature room. They may have a severe reaction to certain foods, medicines or an insect sting. They may struggle with life-threatening symptoms.

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Symptoms might suggest an allergic reaction. But what to do if allergy testing is inconclusive? In this case, your doctor may evaluate you for a mast cell disease.

What are mast cells?

Mast cells are white blood cells in our immune system. They reside in body tissue and help protect us from viruses, germs, allergens, irritants and toxins. When mast cells detect one of these invaders, they help fight it off by releasing chemical mediators. But in the process of doing so, they trigger inflammation that can lead to symptoms in multiple body organs.

In people with mast cell diseases, the mast cells don’t work right. They may multiply too fast or over-react, sometimes in response to certain triggers such as allergens. When this happens, it can disrupt the function of the body organs. Mast cells are responsible for allergic reactions, including anaphylaxis (a severe allergic reaction).

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