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Mastocytosis

Medically Reviewed by Dr. Lakshmi Venkataraman, MD on Aug 14, 2018


What is Mastocytosis?

Mastocytosis is a rare health condition where there is an excess number of mast cells in various parts of the body. Mast cells are immune cells that protect the body from foreign and harmful agents by releasing chemicals to destroy the invaders.

The increase in mast cells may be observed in different regions of the body, such as bone marrow, skin, liver, small intestine, and the spleen.


What are the Types of Mastocytosis?

The two forms of mastocytosis are cutaneous mastocytosis, mainly affecting the skin and systemic mastocytosis that can involve skin and several organs in the body

Children are usually affected by mastocytosis of the skin (cutaneous) within the initial 2 years, while in adults, mastocytosis affects the bone marrow, skin, and other regions of the body (systemic).

Cutaneous mastocytosis in children tends to improve or completely resolve by adolescence. In contrast, adults with systemic mastocytosis are affected chronically with the condition and may become more serious in a few cases.

What are the Causes of Mastocytosis?

Mastocytosis is a result of a mutation in the KIT gene. The protein that is produced from this gene controls the development of mast cells. An error in KIT alters the protein's function and affects the production of mast cells. This defective protein gets activated due to numerous triggers of mastocytosis, such as:

Any one of the above triggers can activate the excess production of mast cells, but it is sometimes not clear when exactly the condition gets triggered. Not everyone is affected in the same way by the same triggers.

What are the Symptoms and Signs of Mastocytosis?

Mastocytosis presents with varied symptoms depending on the location where the excess mast cells are produced.

In children with cutaneous mastocytosis, the most common symptom include


Adults are affected by the following symptoms depending on the site involved


The three subtypes of systemic mastocytosis include

How do you Diagnose Mastocytosis?

You should consult your family physician when you begin to notice symptoms of rash, breathlessness or diarrhea brought on suddenly by specific triggers.

Childhood mastocytosis is diagnosed based on the following criteria:

Tests usually done in adults to confirm a diagnosis of systemic mastocytosis include the following

According to the World Health Organization (WHO), the criteria to diagnose mastocytosis in adults consists of either one major and one minor feature OR a minimum of three minor criteria.

How do you Treat Mastocytosis?

Mastocytosis treatment is individualized and is influenced by diagnostic outcomes. In general, treatment aims to reduce the symptoms or outcome (excessive itching, diarrhea, stomach pain) of excess mast cells.

Treatment in children involves:

Treatment in adults involves:

What is the Prognosis of Mastocytosis?

Mastocytosis in children resolves itself before adolescence. However, mastocytosis in adults affects many organs and without prompt treatment, can turn fatal within 3 to 5 years.

References:

  1. Mastocytosis: What it is and how it�s diagnosed and treated. Am Fam Phys. 1999;59(11):3059-3060. - (https://familydoctor.org/condition/mastocytosis/)
  2. NORD. Mastocytosis. Accessed Aug 3, 2018. Cited Aug 6, 2018. Updated 2018. - (https://rarediseases.org/rare-diseases/mastocytosis/)
  3. GARD. Mastocytosis. Accessed Aug 3, 2018. Cited Aug 6, 2018. - (https://rarediseases.info.nih.gov/diseases/6987/mastocytosis)
  4. Mayo Clinic. Systemic mastocytosis. Accessed Aug 3, 2018. Cited Aug 6, 2018. - (https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859)
  5. Mastocytosis: What it is and how it�s diagnosed and treated. - (https://www.aafp.org/afp/1999/0601/p3059.html)
  6. Pardanani A. Systemic mastocytosis in adults: 2017 update on diagnosis, risk stratification and management. Am J Hematol. 2016;91(11):1146-1159. - (https://onlinelibrary.wiley.com/doi/full/10.1002/ajh.24553)
  7. Castells M, Metcalfe DD, Escribano L. Guidelines for the diagnosis and treatment of cutaneous mastocytosis in children. Am J Clin Dermatol. 2011;12(4):259-270. - (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126834/)
  8. Systemic. MedlinePlus. Accessed Aug 7, 2018. Cited Aug 7, 2018. Updated Jul 9, 2018. - (https://medlineplus.gov/ency/article/002294.htm)

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