Mast Cell Disease Glossary of Terms

Aggressive systemic mastocytosis: a rare condition that happens when too many mast cells build up in certain organs and tissues. It can lead to organ damage, particularly in the bone marrow, liver or digestive tract, and eventually become life-threatening.

Allergist: a doctor who specializes in diagnosing and treating asthma, allergies and other allergic conditions.

Anaphylaxis: a severe, life-threatening allergic reaction.

Antacids (H2 blockers): a type of medication that treat stomach issues such as heartburn or acid reflux symptoms, including GERD. They can also help with abdominal pain, nausea, and vomiting.

Antihistamines: a class of medications that treat conditions caused by histamine which causes allergic symptoms. Antihistamines block the release of histamine from mast cells. They can help treat respiratory problems and skin reactions, including itchy skin and flushing.

Biopsy: a medical procedure that involves removing a tissue sample for examination and diagnosis. One example is a bone marrow biopsy.

Corticosteroids: a type of medication that is used to treat conditions that involve inflammation like asthma and allergies.

CT scans: a computed tomography (CT) scan or a CAT scan is a medical imaging test that uses x-rays to create detailed pictures of the inside of the body.

Cutaneous mastocytosis: mastocytosis involving only the skin.

Cutaneous mastocytoma: a type of mastocytosis that causes a buildup of mast cells in the skin. Mastocytoma is a benign (noncancerous) tumor of mast cells that appears on the skin. The tumors are often reddish-brown in color. They can be flat or raised. The tumors may be present at birth or in early infancy. In most cases, there is only one growth but there can be more.

Dermatologist: a doctor who specializes in diagnosing and treating skin conditions such as eczema or chronic urticaria.

Dietitian: a healthcare professional who has training in diet and nutrition.

Diffuse cutaneous mastocytosis: a rare and severe type of cutaneous mastocytosis that usually occurs in children. Symptoms include reddened skin that spreads out over the body. Sometimes blisters develop on the skin. Over time, the skin may thicken. It can look like leather or even an orange peel.

Endocrinologist: a doctor who specializes in diagnosing and treating conditions that are hormone-related.

Epinephrine: Epinephrine is the first-line treatment for anaphylaxis, a severe allergic reaction. It is also known as adrenaline.

Gastroenterologist: a doctor who specializes in diagnosing and treating conditions that affect the stomach or digestive system.

Genetic tests: a test that looks at genetic changes in your DNA. These changes are called mutations or variants. Some mutations or variants can cause health conditions.

Hematologist: a doctor who specializes in diagnosing and treating conditions that affect blood, bone marrow and lymph nodes.

Hereditary Alpha-Tryptasemia: HαT is a genetic trait. It affects 4-8% of the general population. People with this trait have high levels of the protein alpha tryptase. This protein is found around blood vessels. HαT can cause frequent and severe mast cell-mediated reactions like anaphylaxis. It has been linked to mastocytosis and mast cell activation syndrome.

Histamine: a chemical released by your immune system in response to a trigger that can cause allergy symptoms.

Hypersensitivity: an exaggerated or inappropriate response in the immune system to a trigger.

Hypertension: high blood pressure.

Hypotension: low blood pressure.

Idiopathic: no known cause.

Immunologist: a doctor who specializes in diagnosing and treating conditions that involve the immune system. Many allergists are also trained in immunology.

Indolent systemic mastocytosis: a rare, long-lasting condition that affects how mast cells are produced and built up in organs and tissue. The mast cells build up gradually so the symptoms can be mild. It is the most common form of systemic mastocytosis.

Keloids: abnormal growths of scar tissue that can occur after an injury to the skin.

Leukotriene inhibitors (or modifiers): a class of medications the block leukotrienes to help with allergy symptoms. Leukotrienes are chemicals that play a role in allergies and asthma.

Mast cells: A type of white blood cell 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.

Mast Cell Activation Syndrome (MCAS): A rare disease with overactive mast cells. The mast cells release chemical mediators such as histamine too frequently. It can occur with or without exposure to an allergen trigger. People with MCAS are at high risk for a severe allergic reaction, or anaphylaxis.

Mast cell disease: Mast cell diseases are when someone’s body has problems with their mast cells. Everyone has mast cells. But for people with mast cell disorders, they have too many mast cells. Or the mast cells are extra sensitive and overreact. These disorders include mast cell activation syndrome (MCAS) and mastocytosis. These disorders are rare.

Mast cell flare: an episode of mast cell activation syndrome (MCAS) that causes severe allergic reactions and can affect multiple parts of the body.

Mast cell leukemia: a rare and severe form of leukemia that happens when too many abnormal mast cells are found in the blood and bone marrow.

Mast cell mediators: chemical responsible for allergies and severe allergic reactions (anaphylaxis).

Mast cell sarcoma: a sarcoma is a tumor made of connective tissue cells. Mast cell sarcoma is a very aggressive type of sarcoma made up of mast cells.

Mast cell stabilizers: a type of medication that prevents the release of mediators that cause symptoms.

Mastocytosis: a rare disease in which abnormal mast cells build up in the body. These mast cells develop a mutation that allows them to evade mechanisms that control their growth. This unchecked growth disrupts the tissue it’s designed to protect. The mast cells transfer into organs including the skin, bone marrow, digestive system and respiratory system. This causes symptoms of mastocytosis.

Quercetin: a natural antihistamine found in certain plants and foods like apples, berries, onions, and green tea.

Serum tryptase: a marker of mast cell burden or activation in your blood. A blood test measuring serum tryptase can help diagnose mast cell disease.

Skin discoloration: a change in skin color, texture or pigment that is different from the natural skin tone.

Smoldering systemic mastocytosis: a rare, long-lasting blood disease where the body produces too many mast cells. It can affect the bone marrow, liver and spleen. Symptoms are less severe than other types of systemic mastocytosis.

Systemic mastocystosis: a type of mastocytosis that involves organs and tissue across the whole body. Symptoms can affect the skin, digestive tract, respiratory system, heart, liver, spleen and bone marrow.

Systemic mastocytosis with an associated hematologic neoplasm: a rare condition that happens when too many mast cells build up in certain organs and tissues, along with another blood disorder. It can lead to organ damage, particularly in the bone marrow, lymph nodes, bones, liver, spleen, and small intestine.

Triggers: something that makes your condition worse. This could be what causes your body to have an allergic reaction, such as an allergen. Or it could be something that causes discomfort in your body, such as an irritant.

Tyrosine kinase inhibitors: a type of medication that blocks the action of the protein tyrosine kinase. The medication works by inhibiting the protein that leads to a buildup of mast cells. It can help stop symptoms before they start.

Urticaria pigmentosa: a rare skin disease that is a subtype of cutaneous mastocytosis. It causes itchy, brownish spots or lesions on the skin that are usually flat but can be raised. (The condition is also called maculopapular cutaneous mastocytosis.) Urticaria pigmentosa accounts for more than half of all cases of mastocytosis of the skin.

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