Mastocytosis: Overview

Mastocytosis is a disorder characterized by mast cell proliferation and accumulation within various organs, most commonly the skin.

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Mast cells are found in the in skin, lymph nodes, internal organs such as the liver and spleen, and the linings of the lung, stomach, and intestine.  They play an important role in helping the immune system defend these tissues against disease by attracting immune defense cells to areas of the body that are under threat, by releasing chemical "alarms" such as histamine and cytokines.

Mast cells gather around wounds, so they are believed to play a part in wound healing.  The typical itching is commonly felt around a healing scab may be caused by histamine released by mast cells.  Mast cells may also have a role in the growth of blood vessels.

Incidence; Causes and Development

Mastocytosis is believed to affect under 200,000 people in the United States.  However, it may often be misdiagnosed, especially because it typically occurs secondary to another condition, and thus may occur more frequently than assumed.

The presence of too many mast cells (mastocytosis) can occur in two forms: cutaneous and systemic.  The most common cutaneous (skin) form is also called urticaria pigmentosa, which occurs when mast cells infiltrate the skin.  Systemic mastocytosis is caused by mast cells accumulating in the tissues and can affect organs such as the liver, spleen, bone marrow, and small intestine.

Signs and Symptoms

When too many mast cells are present in the body, the chemicals that they release can cause:

Diagnosis and Tests

Cutaneous mastocytosis is diagnosed by the appearance of the skin (characteristic lesions that are dark-brown and fixed: urticaria pigmentosa), and confirmed by finding an abnormally high number of mast cells through a skin biopsy.

Systemic mastocytosis is diagnosed by finding an increased number of abnormal mast cells during an examination of the bone marrow.

Other useful tests include measurement tryptase (a protein) from mast cells in the blood and a search for specific genetic mutations that are associated with this disease.

Treatment and Prevention

Antihistamines reduce the effect of mast cell histamine, and anticholinergics relieve intestinal cramping.  A number of other treatments exist for specific symptoms of mastocytosis.

  • Antihistamines treat itching and other skin complaints by blocking receptors targeted by histamine released from mast cells.  Both H1 and H2 blockers may be helpful.
  • Specific types of antihistamine work against ulcers
  • Proton Pump Inhibitors relieve ulcer-like symptoms by reducing production of stomach acid, which is often increased in patients with mastocytosis
  • Epinephrine treats shock (anaphylaxis) by constricting blood vessels and opening airways to maintain adequate circulation and ventilation
  • Some types of antihistamine treat severe flushing and low blood pressure before symptoms appear
  • Salbutamol and other beta-2 agonists open airways that can constrict in the presence of histamine
  • Corticosteroids can be used topically, inhaled, or systemically to reduce inflammation
  • Steroids treat nutrient malabsorption
  • Cromolyn sodium may reduce cramping in the abdomen.
  • Antidepressants are an important and often overlooked treatment.  Depression and other neurological symptoms may be present with mastocytosis, and some antidepressants such as doxepin are themselves potent antihistamines which can help relieve physical as well as cognitive symptoms.
  • Dihydropyridines and calcium channel blockers are sometimes used to treat high blood pressure.

When mastocytosis is malignant, cancerous, or associated with a blood disorder, steroids and/or chemotherapy may be prescribed.

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Mastocytosis suggests the following may be present:


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