According to Merriam-Webster Online, mastocytosis (pronounced mas•to•cy•to•sis), means an "excessive proliferation of mast cells in the tissues." (Retrieved 4/6/09 from http://www.merriam-webster.com/medical/mastocytosis.)
Mast cells are something that are produced naturally in every body, necessary to assist the body in fighting possible foreign threats to the system. Individuals with mastocytosis have an abundance of mast cells and the mast cells do not work properly in reaction to a trigger, sometimes unknown.
In the early to mid-20th century, all forms of mast cell disease were undifferentiated and were grouped under the name mastocytosis. Mastocytosis specifically means "an abnormal increase in the number of mast cells," but we now know that definition, taken from the root words, relates to some very specific mast cell disorders, and may not apply to others. Some of the research done in the latter part of the 20th century laid the groundwork for much of the work done today. Over the last 30 years, there has been an explosion of interest in, and research into, the various mast cell diseases, resulting in many different categories being defined, and the definitions are still evolving.
So, for the purposes of this section, we will refer to the general term mast cell diseases which encompasses the following very general subcategories*:
Cutaneous Mastocytosis, refering to the skin, including
Urticaria Pigmentosa, refered to as UP, relating to hives and skin lesions
Telangiectasia Macularis Eruptiva Perstans, refered to as TMEP, relating to a rare form of the skin disease, most often occuring in adults, and consisting of generaly smaller lesions than are typically seen in UP
Systemic Mastocytosis, involving more than one (1) organ (skin, gastro-intestinal, liver, etc.), with or without cutaneous manifestations outlined above, including
Indolent Mastocytosis, relating to slowly developing
Aggressive Mastocytosis, as it suggests, more aggressively developing
Mastocytosis with associated hematologic disorder
Mast Cell Leukemia
Mast Cell Activation Disorder or Syndrome, referred to as MCAD
Pediatric mast cell disorders typically include the following
Solitary Mastocytoma, as it suggests, a solitary or single "clump" of mast cells or lesions
Urticaria Pigmentosa (explained above)
Diffuse Cutaneous Mastocytosis, as it suggests, diffuse skin involvement of hives and lesions
It is less common for children to suffer from systemic symptoms, but there are a number of cases.
In 2000, at a meeting in Vienna, Austria, a consensus was reached about what criteria must be fulfilled for a diagnosis of Mastocytosis (see our Research article entitled A Consensus Document for more information). Many people met the new criteria. However, many patients who had been formerly diagnosed with Systemic Mastocytosis did not seem to fit into the agreed-upon criteria, possibly because their diagnostic work-up was done incorrectly, or was not conclusive, or because they were not tested for all the criteria. Over the last few decades, some researchers began differentiating between the different forms of mast cell diseases. A few began individually defining new categories, one of which is called Mast Cell Activation Syndrome or Disorder (MCAS/MCAD). Although the various forms of mast cell disease may present with some of the same symptoms, and may be treated with the same medications and avoidance of known triggers, the cause of the symptoms is what makes them separate, but related, entities. Indeed, mastocytosis and other mast cell disorders are heterogeneous, meaning they can present in many different ways. Ultimately, the cause of each different form of mast cell disease may dictate how they are treated.
What we know about Systemic Mastocytosis is that in many cases, it is a neoplastic disease, meaning that it involves new or abnormal cell growth. (Please note - this may not apply to most cases of pediatric and/or familial Mastocytosis.) In this case, the cells involved are mast cells, which are normally contained in body tissues. Mast cells release certain mediators, or chemicals, of which one is histamine, into the body in response to certain events. People with Systemic Mastocytosis develop an increase in the number of mast cells, or they develop abnormally shaped mast cells, which may not function properly. In addition, the mast cells fail to die off when they are supposed to, further increasing the total mast cell burden. This die off is called apoptosis. Apoptosis is programmed into normal cells, but in people with mast cell disorders, the mast cells may fail to die off, resulting in an increased number of mast cells in the body. When these mast cells are triggered, they can degranulate, and release their contents all at once, or they can slowly leak their contents in response to a trigger. This can cause many acute and potentially serious symptoms, which include, but are not limited to, the following:
People who have been told they have Mast Cell Activation Syndrome or Disorder (MCAS/MCAD) may have a normal, or nearly normal, number of mast cells. However, their mast cells "behave badly" - that is, they are easily triggered to release their contents, which results in many of the same symptoms that people with Mastocytosis experience. The danger of anaphylaxis and shock is present with MCAD/MCAS, but unlike Mastocytosis, this syndrome may not have the potential to progress to a more aggressive or malignant stage. Nevertheless, people with either Mastocytosis and MCAS/MCAD can be either very stable or extraordinarily ill on a day-to-day basis, and managing the unpredictability of the mast cell diseases and their symptoms can be quite challenging.
Triggers are stimuli that can set off a mast cell response, potentially leading to a mast cell attack. Avoidance of various triggers (things that can set off a mast cell attack) can do much to improve quality of life and reduce the need for medication, but that is often easier said than done, as the triggers can be almost anything, including, but not limited to, the following:
Alcohol
Anesthetic agents
Antibiotics
Bacteria or fungi
Certain foods
Cold (temperature)
Coloring & flavoring in foods
Coloring & flavoring in medications
Emotional upset
Environmental toxins
Exercise or excertion
Fatigue
Fever
Friction
Friction
Heat (temperature)
Infection with viruses, bacteria or fungi
Mold
MSG
Narcotics
Perfumes
Pesticides
Plasma expanders (i.e. dextran)
Preservatives
Room freshener sprays
Smells
Spices
Stress
Sunlight
There is great variation from person to person in what is a trigger, and even within the same person. The triggers may change day-to-day - that is, heat may set off an attack on one day, but not on other days. The above list is not complete, but is meant to show the wide range of triggers that affect mast cells.
Some people with the indolent form of Mastocytosis, and/or people with Mast Cell Activation Disorder or Syndrome, have been told by some physicians that they can expect a nearly normal life expectancy, as long as they keep themselves as stable as possible by avoiding triggers and taking medications as prescribed. However, since it is not clear what is causing mast cell activation in patients with MCAD, this may not apply. Mast cell diseases are extremely unpredictable, and some people can very quickly develop acute symptoms that may require immediate medical attention. That is why it is advisable to stay within range of a medical facility, and to carry a written protocol from your mast cell disease specialist for emergency care.
While a few people manage to remain stable and healthy by avoiding dietary and environmental triggers, many people with mast cell disease take a medication protocol that involves some or all of the following:
H1 blockers - antihistamines like hydroxyzine (Atarax®), diphenhydramine (Benadryl®), Doxepin®, loratadine (Claritin®), and cetirizine (Zyrtec®)
H2 blockers - antihistamines like ranitidine (Zantac®) or famotidine (Pepcid®)
Leukotriene inhibitors like Singulair®, Accolate®, or Zyflo®
Mast cell stabilizers like oral cromolyn sodium (Gastrocrom®), cromolyn sodium nasal solution (NasalCrom®) or Ketotifen (Apo®-Ketotifen, Zaditen®)
In addition, many people require:
Proton pump inhibitors like omeprazole (Prilosec®), pantoprazole (Protonix®), lansoprazole (Prevacid®)
Inhaled bronchodilators such as albuterol (Ventolin®)
Corticosteroids
More aggressive forms of the disease may require the use of chemotherapeutic agents and/or cytoreductive therapies. Further information about the use of these agents in treating mast cell diseases can be found at cancer treatment centers.
*This is a very general overview of the most common Mast Cell Disorders, written by patients/caregivers and TMS Board Members. (Please note: We are not discussing all Mast Cell Related Disorders, such as Asthma, on this site, but rather are focusing on some of the disorders that were previously collectively called Mastocytosis.) For specific medical information, please consult your physician. We will be adding more specific information about these diseases to this web site in the near future.
Public Press
AP article from the Boston Globe:
One of our Medical Advisory Board members featured in this article about drug desensitization, "...Dr. Mariana Castells, an allergist at Harvard Medical School and Brigham and Women’s Hospital in Boston who helped pioneer the care." (Boston Globe. 2010. Help for patients with drug allergy. Retrieved April 15, 2010 from http://www.boston.com/news/nation/washington/articles/2010/04/13/temporary_fix_may_help_patients_with_drug_allergy/.) [PDF]
News article on wickedlocal.com: Autism is five to seven times higher in patients with a rare disease called mastocytosis, a discovery that may have just uncovered a vital clue to a biological cause that contributes to autism, according to a recent published report authored by a Brookline researcher. An article about research being done by Dr. Theoharides, one of our Medical Advisory Board members, at Tufts University in Boston, MA. (Brookline TAB. 2010. Retrieved April 6, 2010 from http://www.wickedlocal.com/brookline/news/x160320501/Brookline-doctor-seeks-autism-breakthrough.) [PDF]
NY Times article on The Times Magazine: Losing Consciouness, an article written by Dr. Lisa Sanders, M.D., of a woman rushed to the ER after losing consciouness in a store.
""Mommy, I’m afraid. Tell me what to do.” The child’s mother looked up at her 8-year-old daughter. “It’s going to be O.K.,” she said. “Just go get some help."" (NYTimes.com. 2009. Retrieved June 9, 2009 from http://www.nytimes.com/2009/06/07/magazine/07wwln-diagnosis-t.html?_r=1&emc=eta1.) [PDF]
News article on 18 WLFI West LaFayette, IN: Simple treatment helps local resident, is a news article about Marty Laird, a LaFayette resident diagnosed with mastocytosis, who found a treatment for skin blisters in Vetricyn, a spray on wound cleanser that consists of a blend of oxychlorine compounds.
""It's just a simple, simple water with a lot of oxygen in it. Most products you lose the oxygen. This has a patent on it that they have developed that allows the product to hold the oxygen. That's what makes it so important. Oxygen is a natural enemy to bacteria," said Laird." (WLFI. 2009. Retrieved March 25, 2009 from http://www.wlfi.com/dpp/news/local_wlfi_westlafayette_mastocytosismicrocynoxygenthesimplesolution_20090323.) [PDF]
News article on WTVG-TV Toledo, OH: I-Team investigation: Medical care for a toddler, is a news article about a child with pediatric mastocytosis, in need of surgery but having trouble getting a doctor who will perform the surgery given the mastocytosis and life-threatening reactions of the child.
"Brexton has something called pediatric mastocytosis, a disease of the skin causing children to be extremely allergic to a wide variety of things. He has a special diet without milk or eggs. Children also develop blister-like spots all over their bodies." (WTVG. 2008. Retrieved February 11, 2009 from http://abclocal.go.com/wtvg/story?section=news/iteam&id=6015944.) [PDF]
16th Annual Conference
October 21-24, 2010
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This Web site is intended to provide basic information about Mastocytosis
and Mast Cell-related disorders or diseases. Information contained herein
has been approved by the TMS Board of Directors only.
It is not intended to provide,
nor does it constitute, medical advice. Readers are warned against changing life activities
based on this information without first consulting a physician.
