Systemic mastocytosis (mas-to-sy-TOE-sis) is a disorder caused by a genetic mutation that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine and leukotrienes. But if you have systemic mastocytosis, excess mast cells can build up in your skin, around blood vessels, in your respiratory, gastrointestinal and urinary tracts, or in reproductive organs. When triggered, these mast cells release substances that can overwhelm your body and result in symptoms such as facial flushing, itching, a rapid heartbeat, abdominal cramps, lightheadedness or even loss of consciousness. Common triggers include alcohol, temperature changes, spicy foods and certain medications.

Several types of systemic mastocytosis exist. The most common form — indolent systemic mastocytosis — progresses slowly. The second most common form is systemic mastocytosis associated with a second blood disorder. Another type, aggressive systemic mastocytosis, develops rapidly and is often associated with organ damage. Mast cell leukemia and mast cell sarcoma are extremely rare forms of systemic mastocytosis.

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  • Personalized care. At Mayo Clinic, doctors manage systemic mastocytosis by regularly monitoring your condition, then tailoring a treatment plan to help you manage your specific symptoms.
  • Latest diagnostic and treatment options. Mayo Clinic is one of the only treatment centers with the ability to collect samples from you at the time you're experiencing symptoms of systemic mastocytosis. This is the optimal time to gather valuable information about your condition.

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Doctors trained in allergic diseases, dermatology, gastroenterology, pediatrics, neurology, endocrinology, hematology and pathology care for people with systemic mastocytosis at Mayo Clinic in Minnesota.

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Diagnosis of systemic mastocytosis can be confirmed by finding high numbers of mast cells or high levels of the substances they release in your body, such as tryptase, histamine or prostaglandins. Tests your doctor may use to confirm systemic mastocytosis include:

  • Bone marrow biopsy. A small amount of your bone marrow tissue will be analyzed for increased numbers of mast cells, if this test has not been done already.
  • Blood tests. A low number of red blood cells (anemia) or a high number of a type of white blood cells called eosinophils may indicate systemic mastocytosis.
  • Urine tests. High levels of histamine and prostaglandins in your urine may also indicate systemic mastocytosis.
  • Imaging tests. X-rays, ultrasounds and computerized tomography (CT) scans help to determine the extent and stage of your condition by providing a picture of your insides, revealing possible bone or organ involvement.

Treatment for systemic mastocytosis varies depending on the type you have. Basic components of most systemic mastocytosis treatment plans include:

  • Treating and controlling symptoms. Mayo Clinic doctors will help you identify particular factors that may trigger your symptoms of systemic mastocytosis, such as certain foods, medications, insect stings or temperature changes. They will also work with you to help keep your systemic mastocytosis symptoms under control with medications, such as antihistamines, aspirin, and drugs that will counteract the effects of the substances released by your mast cells — such as corticosteroids and leukotriene agonists. Your doctors may also teach you how to give yourself an epinephrine injection in the event you have a severe allergic response when your mast cells are triggered.
  • Regular monitoring. Your Mayo Clinic doctors will regularly collect blood and urine samples from you to monitor the status of your condition. Mayo Clinic is one of the only centers to offer a special home kit that you can use to collect blood and urine samples while you're experiencing symptoms, which gives your doctor a better picture of how systemic mastocytosis affects your body.
  • Bone density measurements. Because systemic mastocytosis can affect your bones and bone marrow, you may be at risk for bone problems, such as osteoporosis. At Mayo Clinic, bone density measurements every two years are a regular component of your treatment.

If you have the aggressive form of systemic mastocytosis or mastocytosis associated with another blood disorder, you may be treated with chemotherapy medications, which reduce the number of mast cells. Chemotherapy treatment length varies depending on your specific condition, how well you respond to treatment and how well you tolerate it.

Doctors trained in allergic diseases and other disciplines conduct basic and clinical research in potential diagnostic tests and treatments for systemic mastocytosis.

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Nov. 20, 2012