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Mastocytosis

This is when there are too many white blood cells (called mast cells) in one or more parts of your body. These mast cells cause allergy like symptoms for no reason. Most people have a normal or near normal life expectancy.

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Causes

Mast cells often stay in the bone marrow. This is where new blood cells are made.  In most cases, these mast cells have a gene mutation. The gene gives instructions for making a protein makes mast cells and their activity. These mutations will happen over your lifetime.  Mast cells can gather in tissues such as the gastrointestinal tract, lymph nodes, spleen, or liver. This leads to more allergy type responses in those tissues and your body.

Triggers can be:

  • Temperature change
  • Pressure
  • Surgery
  • Insect stings
  • Vaccines
  • Anxiety and stress
  • Medicines, such as opioids or non-steroidal anti-inflammatory drugs (NSAIDs).

Symptoms

  • Fatigue
  • Flushing
  • Hives and swelling
  • Abdominal pain, nausea, diarrhea
  • Shortness of breath and wheezing
  • Low blood pressure, lightheadedness, headache
  • Anxiety
  • Skin rash called urticaria pigmentosa. These are raised patches of brownish skin that sting or itch when irritated.
  • Whole-body severe allergic reactions. This is anaphylaxis.

Exams and tests

  • Skin, tissue, or bone marrow biopsy
  • Blood tryptase level
  • C-KIT gene mutational analysis

Treatment

  • Steroids, like prednisone.
  • Immunomodulatory medicines such as hydroxyurea,  Methotrexate, Interferon-alpha
  • Tyrosine kinase inhibitors, such as Midostaurin, imantinib, dasatinib, and nilotinib)
  • Anti-IgE therapy, omalizumab. This is a medicine to target a specific part of the allergy immune system.

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