Mastocytosis

Mastocytosis

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Mastocytosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Systemic Mast Cell Disease
  • Systemic Mastocytosis

Disorder Subdivisions

  • Mast Cell Leukemia
  • Cutaneous Mastocytosis
  • Indolent Systemic Mastocytosis
  • Mastocytosis with an Associated Hematological Disorder
  • Mast Cell Sarcoma/Extracutaneous Mastocytoma
  • Aggressive Systemic Mastocytosis
  • uticaria pigmentosa

General Discussion

Mastocytosis is a rare disorder characterized by abnormal accumulations of mast cells in skin, bone marrow, and internal organs such as the liver, spleen and lymph nodes. Cases beginning during adulthood tend to involve the inner organs in addition to the skin whereas, during childhood, the condition is often marked by skin manifestations with minimal or no organ involvement. When there is evidence of bone marrow or internal organ involvement, the disease is referred to as "systemic mastocytosis".



Although the majority of cases follow an indolent course, some patients may have evidence of a blood disorder such as a myelodysplastic or myeloproliferative disorder at the time of diagnosis. The course and prognosis of mastocytosis in these patients are determined by this associated hematologic disorder. More aggressive forms of mastocytosis and mast cell leukemias are very rarely encountered.

Symptoms

Skin is the most common site of involvement. Urticaria pigmentosa lesions are small, brownish, flat or elevated spots that may be surrounded by reddened, itchy skin when stroked. These lesions tend to be more apparent on the areas of skin exposed to pressure or rubbing. When cases begin during childhood, the skin tends to be affected more than the other organs. Blistering of the skin lesions is seen exclusively in children younger than two years of age. Diffuse cutaneous mastocytosis is another form of mastocytosis seen in children. The skin is diffusely thickened and discolored, generally without individual distinct lesions in this form of mastocytosis.



Flushing and gastric acid hypersecretion due to mast cell-associated histamine are common complaints. Heartburn, stomach aches and diarrhea may occur. The liver, spleen and lymph nodes may become enlarged in a subset of patients. Bones affected by mastocytosis may become softened and deteriorate, although some new bone growth may occur with thickening of the outer portions or spongy inner areas of the bones. Massive mast cell degranulation may lead to life-threatening episodes of anaphylaxis. The most common triggers include, but are not limited to, certain medications like aspirin and other non-steroidal anti-inflammatory drugs, narcotics, radiocontrast material, and insect stings. These are similar in nature to severe allergic reactions and may involve hypotension, increased heart rate and loss of consciousness. Patients with an associated hematologic disorder may have symptoms of that disorder such as fatigue and weight loss.

Causes

A genetic alteration (mutation) resulting in the overactivation of the receptor for mast cell growth factor (c-kit) has been identified in the abnormal mast cells in adult-onset mastocytosis. This mutation is believed to cause the abnormal accumulation of mast cells in certain tissues. The release of mediators produced by mast cells, such as histamine, heparin and prostaglandin D2, results in symptomatic episodes. Histamine is a natural chemical normally released during an allergic event that causes itching, wheezing, dilation of blood vessels, and hypersecretion of stomach acid.

Affected Populations

Mastocytosis affects males and females in equal numbers. It can begin during childhood or adulthood. Childhood-onset disease most commonly starts in the first two years of life.

Standard Therapies

In October 2006, the FDA granted expanded approval to treat aggressive systemic mastocytosis with the cancer drug imatinib mesylate (Gleevec). For information on Gleevec, contact the drug's manufacturer, Novartis, at:



Novartis International AG

CH-4002

Basel, Switzerland

www.novartis.com



Treatment of mastocytosis is directed at controlling the symptoms caused by mast cell mediators. H1 and H2 antihistamines are therefore cornerstones of the treatment. Cromolyn sodium can be especially effective for the treatment of some gastrointestinal symptoms. PUVA treatment may cause temporary attenuation of the urticaria pigmentosa lesions. Steroids may be necessary in selected patients unresponsive to standard therapy.



Subcutaneous injections of epinephrine can be self-administered by the patient in cases of severe anaphylactic episodes. This therapy should always be followed by evaluation of the patient in a medical facility.



Associated hematologic disorders should be treated by a blood specialist (hematologist).

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com.



For information about clinical trials conducted in Europe, contact:

https://www.clinicaltrialsregister.eu/

References

TEXTBOOKS

Cotran R, Kumar V, Robbins S. Robbins' pathologic basis of disease. 4th ed. Philadelphia: Saunders, 1989.



Edelman R, Hesselink J. Clinical magnetic resonance imaging. Philadelphia: Saunders, 1990.



Kopans D. Breast imaging. Philadelphia: Lippincott, 1989.



Resnick D. Bone and joint imaging. Philadelphia: Saunders, 1989.



Fauci AS, et al., eds. Harrison's Principles of Internal Medicine, 14th Ed. New York, NY: McGraw-Hill, Inc; 1998:1863-66.



Hoffman R, et al., eds. Hematology. 3rd Ed. Churchill Livingstone; 2000:830-846.



Beers MH, Berkow R, eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:1056-57.



Berkow R., ed. The Merck Manual-Home Edition. Whitehouse Station, NJ: Merck Research Laboratories; 1997:831.



REVIEW ARTICLES

Tharp MD, Longley BJ Jr. Mastocytosis. Dermatol Clin. 2001;19:679-96, viii-ix.



Valent P, Horny HP, Escribano L, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res. 2001;25:603-25.



Marone G, Spadaro G, Granata F, et al. Treatment of mastocytosis: pharmacologic basis and current concepts. Leuk Res. 2001;25:583-94.



Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res. 2001;25:571-76.



Austen KF, Boyce JA. Mast cell lineage development and phenotypic regulation. Leuk Res. 2001;25:511-18.



Hartmann K, Henz BM. Mastocytosis: recent advances in defining the disease. Br J Dermatol. 2001;144:682-95.



Valent P, Schernthaner GH, Sperr WR, et al. Variable expression of activation-linked surface antigens on human mast cells in health and disease. Immunol Rev. 2001;179:74-84



Krishnaswamy G, Youngberg G. Acute and chronic urticaria. Challenges and considerations for primary care physicians. Postgrad Med. 2001;109:107-08, 111-14, 119-23.



Kumar S, Moody P. Mastocytosis. Pediatr Rev. 2001;22:33-34.



Worobec AS. Treatment of systemic mast cell disorders. Hematol Oncol Clin North Am. 2000;14:659-87, vii.



Hartmann K, Metcalfe DD. Pediatric mastocytosis. Hematol Oncol Clin North Am. 2000;14:579-623, vii.



Parker RI. Hematologic aspects of systemic mastocytosis. Hematol Oncol Clin North Am. 2000;14:557-68.



Soter NA. Mastocytosis and the skin. Hematol Oncol Clin North Am. 2000;14:537-55.



Taylor ML, Metcalfe DD. Kit signal transduction. Hematol Oncol Clin North Am. 2000;14:517-35.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 154800; Last Update: 12/6/99.

Resources

The Mastocytosis Society, Inc.

PO Box 129

Hastings, NE 68902-0129

USA

Email: stratigic.planning@tmsforacure.org

Internet: http://www.tmsforacure.org



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



CMPD Education Foundation

P.O. Box 4758

Scottsdale, AZ 85261

Email: ian.sweet@homemail.com.au

Internet: http://www.mpdinfo.org/CMPD_foundation.html



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Cancer.Net

American Society of Clinical Oncology

2318 Mill Road Suite 800

Alexandria, VA 22314

Tel: (571)483-1780

Fax: (571)366-9537

Tel: (888)651-3038

Email: contactus@cancer.net

Internet: http://www.cancer.net/



Mastokids

P.O. Box 895

Mandeville, LA 70470-0895

USA

Email: listmom@mastokids.org

Internet: http://www.mastokids.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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