Mast Cell Disorder

Mast Cell Disorder

Mast cells are a specific kind of white blood cell. They’re found throughout the body, particularly in areas where the body comes into contact with the environment, like the lungs, the skin, and the GI tract.

A mast cell disorder is a condition in which these cells become overactive or grow in an abnormal fashion. Mast cell disorders can cause bone pain, abdominal pain, flushing and itching and many other symptoms.

Mast cells are a vital part of the immune system. They help protect us from parasites and disease and perform other functions, such as encouraging bone growth and helping wounds to heal.

Sometimes, though, mast cells begin to respond improperly to certain triggers and set off allergic reactions or begin to proliferate too quickly and accumulate in organ tissues. This is known as mast cell disease, which comes in several forms.


Mastocytosis comes in two forms: systemic disease and cutaneous disease. Systemic mastocytosis, typically found in adult patients, involves mast cells gathering in the bone marrow and in organ systems. Cutaneous mastocytosis is confined to the skin and is more likely to be found in children. It causes brownish lesions that itch. Children with this disorder are more likely to develop other severe allergic reactions.

Mast Cell Activation Syndrome

Persons with MCAS repeatedly experience the severe allergic symptoms of anaphylaxis, a life-threatening allergic reaction. During these episodes, mast cells release far too many chemicals, causing swelling and hives, difficulty breathing, low blood pressure, and diarrhea.

Hereditary Alpha-Tryptasemia

Hereditary alpha-tryptasemia is a common genetic trait found in roughly 5.7% of the population in the United Kingdom, the U.S., and the European Union. It means that a person has one or more extra copies of the alpha tryptase gene. Tryptase is one of the chemicals produced by mast cells. Hereditary alpha-tryptasemia is associated with more severe anaphylaxis and mast cell mediator symptoms in certain mast cell-associated disorders.


Systemic mastocytosis symptoms depend on where mast cells are overproducing. Some of the most commonly affected areas include the skin, spleen, liver, intestines, and bone marrow. The brain, lungs, and heart may also be affected.

The systemic mastocytosis symptoms that people report having the most are:

  • Itching, flushing, or hives.
  • Diarrhea, nausea, and abdominal discomfort.
  • Anemia and other bleeding disorders.
  • Musculoskeletal pain.
  • Swollen liver, spleen, or lymph nodes.
  • Depression.
  • Mood swings.
  • Trouble concentrating.


A mutation in the KIT gene, which guides the production of a protein that’s important to mast cell function, causes most cases of mastocytosis. The mutation is typically not inherited, but tends to occur after conception. More than 80% of people  with systemic mastocytosis have a KIT mutation that leads to overproduction of mast cells.


Common mast cell triggers include:

  • Physical activity.
  • Certain foods and beverages, like alcohol and spicy foods.
  • Skin irritation from chemicals, perfumes and other sources.
  • Insect stings and bites.
  • Medications, such as opioids, NSAIDs, antibiotics, and local anesthetics.


Systemic mastocytosis complications:

  • Severe allergic response.
  • Blood disorders.
  • Peptic ulcers.
  • Osteoporosis (bone loss).
  • Organ failure.


The first step in diagnosing systemic mastocytosis is having a discussion with a doctor about past and present symptoms and your medical history.

Doctors may perform tests to check for excess mast cells, the chemicals they produce, and possible damage to organs. Testing may include:

  • Blood and urine analysis.
  • Biopsies of bone marrow, skin, liver, and other organs.
  • Ultrasounds, CT scans, bone scans, and X-rays.
  • Liver biopsies and biopsies of other afflicted organs.
  • Genomic analysis.

Treatment for Mast Cell Disorders

Symptom management, illness treatment, and ongoing monitoring are the standard components of care for systemic mastocytosis. Standard practices include:

  • Avoiding triggers.
  • Medicine. Antihistamines, corticosteroids, oral steroids, and drugs that target the KIT mutation are among the drugs that may be employed.
  • Epinephrine injection.
  • Chemotherapy.
  • Stem cell transplant.
  • Ongoing monitoring

Caring, Expert Help

Conditions such as mast cell disorder can be difficult to diagnose, but the staff at the Florida Medical Clinic Orlando Health Department of Allergy, Asthma & Immunology provides a complete array of services for full diagnosis of many conditions. Call today to get help diagnosing and treating your problem.

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