Oklahoma Mastocytosis Society - Medical Information












































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The following article is from the official Mastocytosis Pamphlet of the National Mastocytosis Society.


Mastocytosis is a rare disorder that affects both children and adults.  It is caused by the presence of too many masto cells in a person's body.  The mast cells usually congregate in the skin, liver, spleen, bone marrow, and gastrointestinal tract, but why mast cells proliferate and accumulate is unknown.  Genetic mutations of the receptor for mast cell growth factor have been detected in most adults and in some children.  Mast cells may play a role in wound healing, defending tissues from disease and releasing chemical alarms such as histamine to attract other key players of the immune system.  The disease is presently divided into four categories: (1) Indolent Mastocytosis (the most common form);  (2) Mastocytosis with an associated hematologic disorder; (3) Aggressive Mastocytosis; and (4) mast cell leukemia.  Most children have some form of Mastocytosis in the skin.  Adults can have systemic Mastocytosis (SM) with or without skin involvement.  The number of patients with Mastocytosis is unknown because so few doctors recognize it.


Diagnosis may be delayed because of failure to recognize Urticaria Pigmentosa (UP) skin lesions.  When identifying UP, a biopsy of the skin must be performed and then it is stained for mast cells.  The pathologist should be aware of the potential diagnosis.  To diagnose SM, evidence of characteristic mast cell proliferation must be shown in at lest one tissue other than the skin, e.g. bone marrow, liver or gastrointestinal tract.  Again the physician must be made aware of the potential diagnosis to ensure the biopsy tissue is treated correctly for mast cells.  If Systemic Mastocytosis is suspected, a bone marrow biopsy and aspirate is often suggested.


Flushing, palpitations, difficulty breathing, dizziness, headache, fatigue, intermittent diarrhea, syncope, itchiness, nausea and/or vomiting, abdominal pain, heartburn, bone and soft tissue pain, irritability, forgetfulness and anaphylaxis.

Affected people commonly refer to the occurrence of symptoms as an "attack" or an anaphylactic episode.  A Typical anaphylactic episode may last from one to several hours.  Symptoms may include nausea, vomiting, and diarrhea, severe gastrointestinal cramping, flushing, breathing difficulties, headache, confusion, and tachycardia.  If blood pressure falls, the person can go into shock and emergency care is needed immediately.  All Mastocytosis patients are instructed to have an EPI pen (an epinephrine shot available.


A variety of medications are used to treat Mastocytosis symptoms, including H1 blockers (antihistamines), H2 blockers (Cimetidine, Ranitidine, etc.) and specific mast cell stabilizers like Gastrocrom or Ketotifen are also used.  Ketotifen is unavailable in the U.S. but patients can legally import a 3-month supply.

Some doctors advise the cautious use of aspirin or non-steroid anti-inflammatory drugs (NSAIDS) to inhibit prostaglandins if further treatment is needed.  Some Mastocytosis patients react to these drugs by going into severe anaphylactic shock, so the doctor and patient should exercise extreme caution.

Prednisone is usually reserved for the difficult cases that cannot be controlled otherwise.  Prednisone is also the drug of choice for malabsorption.  

Bone pain can also be a problem.  Narcotic drugs can cause mast cells to degranulate so obtaining pain relief is not always easy.

When there is an associated cancer, it is treated with appropriate chemotherapy; however, chemotherapy has no role in the treatment of indolent Mastocytosis.  Along with pharmaceutical intervention is the avoidance of triggers that initiate the cascade of chemical interactions that become symptoms.  As a person becomes more aware of the things that seem to provoke an attack, those things should be avoided or minimized.  Some commonly recognized triggers include, but are not limited to physical exertion, extreme temperature (hot or cold), stress, emotional anxiety, alcohol beverages, bee stings, narcotic analgesics, radiological contrast dyes, aspirin, non-steroidal anti-inflammatory drugs, and some surgical anesthetic agents.  All medications should be discussed in depth with a physician while keeping in mind any prior reactions.  In addition, a medical alert bracelet or necklace should be worn at all times in the event that you are unable to communicate, to ensure proper care.


Mastocytosis is a rare incurable disease that can only be controlled symptomatically with the correct combination of medications and reduction of triggers.  There is no medical specialty that covers this disease so any interested physician can be your care manager.  The long-term prognosis is good for indolent Mastocytosis and most children.  There are a small percentage of patients with an associated hematological disorder for whom the course varies since the prognosis depends on the underlying disorder.  The association of malignant disorders in children is rare.

Some of the most important research advances for this rare disorder include improved diagnosis of Mast cell disease, identification of growth factors that are responsible for increased mast cell proliferation, and improved treatment.  Scientists are currently focusing on the identification of genetic mutations.  The understanding of such mutations may help researchers begin to understand the causes of Mastocytosis, improve diagnosis, and lead to better treatment.

Unfortunately, since this is a relatively unknown disease, there is little money applied toward research.  We hope that by printing this information pamphlet that more patients will be correctly diagnosed and we will become recognized as a disorder in need of a cure.


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