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Mastocytosis is a rare disorder in which an abnormally high level of mast cells build up throughout the body. Excess mast cells can accumulate in large numbers in the skin, bone marrow, lymph nodes, lungs, liver, spleen, or gastrointestinal tract. Mast cells are white blood cells that are found in connective tissues throughout the body and release histamine. These cells normally assist in immune system function by helping to protect the body from disease. However, in individuals with mastocytosis, abnormally high levels of mast cells can cause a buildup and elevation of histamine in the body over time, which can cause symptoms similar to an allergic reaction.

Symptoms of Mastocytosis

There are two main sub-categories of mastocytosis -- cutaneous and systemic. Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin without other organ involvement. This form of mastocytosis is most commonly seen in young children and fades by adolescence. In some rare cases, this condition may last into adulthood or develop during adulthood. Symptoms of cutaneous mastocytosis include:

  • Itchy, dark red/brown hives on the skin (urticaria pigmentosa)
  • Itching
  • Blistering due to excessive itching or rubbing (most commonly noted in children)

Systemic mastocytosis is a form of mastocytosis that affects multiple organs. This form of mastocytosis is typically seen in adults. In some cases, cutaneous mastocytosis can precede systemic mastocytosis in adults. Symptoms of systemic mastocytosis can vary greatly depending on which organ systems are affected by excessive mast cells, but some common symptoms may include:

  • Flushing, itching, urticaria pigmentosa, or dermatographic urticaria
  • Abdominal pain, diarrhea, nausea, or vomiting
  • Anemia
  • Bone and muscle pain
  • Enlarged liver, spleen, or lymph nodes
  • Headache and fatigue

Complications of systemic mastocytosis can include:

  • Anaphylactic reactions (a life-threatening reaction that causes difficulty breathing, a rapid but weak heartbeat, a drop in blood pressure, and hives or swelling)
  • Blood disorders (such as anemia or poor blood clotting)
  • Peptic ulcer disease
  • Reduced bone density (osteoporosis)
  • Organ failure (if inflammation is severe enough, organ failure can occur)

Causes of Mastocytosis

Most cases of mastocytosis are caused by a mutation in the KIT gene. The KIT gene normally encodes a protein that helps control important cellular processes, such as cell growth, cell division, and cell movement. The KIT gene mutation that causes mastocytosis causes the overproduction of mast cells. In most cases, this mutation is spontaneous without a very clearly defined genetic component. Symptoms of mastocytosis can be triggered by a variety of different substances or environmental factors. Although triggers vary from person to person, the common triggers include:

  • Consumption of alcohol and/or certain foods
  • Fatigue, stress, or pain
  • Skin irritation
  • Changes in temperature
  • Exercise
  • Insect bites or stings
  • Use of certain medications
  • Infections
  • Odors
  • Exposure to sunlight
  • Friction or vibration

Diagnosis and Treatment of Mastocytosis

Our specialist at Frontier Allergy Asthma and Immunology has extensive training and experience in diagnosing and treating mastocytosis. During your visit, your doctor will review your symptoms and ask about your medical history to determine if a diagnosis for mastocytosis is likely. If so, your doctor will order tests that look for evidence of elevated mast cells or a KIT gene mutation. Common tests include blood or urine tests to determine levels of certain substances that mast cells release, a skin biopsy (that can help diagnose cutaneous or systemic mastocytosis), or genetic testing. Other tests that focus more on particular organs or organ systems may also be useful in determining the presence of systemic mastocytosis. After receiving a diagnosis of either cutaneous or systemic mastocytosis, there are several treatment options that are available, depending on the type of systemic mastocytosis and the body organs that are affected. Your doctor will work closely with you to create a specialized treatment plan unique to your needs that may include identifying triggers to avoid and taking medications. For more severe cases, chemotherapy or stem cell transplants may be necessary, depending on how aggressive your mastocytosis is.

Next steps

If you are interested in further discussion about your specific needs, Dr. Reshamwala is happy to see you and answer any questions you may have. Please call 512-382-1933 or email to schedule an appointment today! Book an appointment

Written by: Dr. Neha Reshamwala
NPI number: 1780874578
Page last reviewed: 03/20/21

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