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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Systemic mastocytosis


Other Names for this Disease

  • Agressive systemic mastocytosis
  • Indolent systemic mastocytosis
  • Mast cell leukemia
  • SMCD
  • Systemic mast cell disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is systemic mastocytosis diagnosed?

The diagnosis of systemic mastocytosis may be based on a number of different types of studies including skin and bone marrow biopsies; measurement of mast cell mediators in blood and urine; blood count; liver function studies; imaging studies; and genetic tests.[1]

A bone marrow biopsy is the most useful test used to diagnose the condition, and skin biopsy may be necessary for those with skin manifestations. Blood tests may show anemia, elevated histamine levels, thrombocytopenia, high white blood cell count (leukocytosis), low blood albumin levels (hypoalbuminemia), high serum tryptase levels, and/or other findings. Imaging studies may help to identify the extent and stage of the disease. Individuals with abdominal pain may need GI radiography, ultrasonography, or a liver-spleen computed tomography (CT) scan. Skeletal surveys and bone CT scanning may be necessary for those with suspected bone involvement. Genetic studies indicate that about 20% of patients with systemic mastocytosis have an abnormal karyotype (picture of an individual's chromosomes), and molecular genetic testing for a specific gene change (mutation) is typically positive.[2]

Because systemic mastocytosis may present in a wide variety of ways with a range of signs and symptoms, individuals who have specific questions about when to be tested and which tests are most appropriate for them should speak with their health care provider.
 
More detailed information about the studies used to diagnose systemic mastocytosis, as well as the diagnostic criteria, are available on eMedicine's Web site and can be viewed by clicking here.
Last updated: 2/1/2012

References
  1. Systemic Mastocytosis. American Academy of Allergy Asthma and Immunology. 2012; http://www.aaaai.org/conditions-and-treatments/related-conditions/systemic-mastocytosis.aspx. Accessed 1/30/2012.
  2. Koyamangalath Krishnan. Mastocytosis, Systemic. eMedicine. July 29, 2010; http://emedicine.medscape.com/article/203948-overview. Accessed 2/1/2012.


Other Names for this Disease
  • Agressive systemic mastocytosis
  • Indolent systemic mastocytosis
  • Mast cell leukemia
  • SMCD
  • Systemic mast cell disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.