What is Mastocytosis?

The Mastocytosis Society defines Mastocytosis as an abnormal accumulation of tissue mast cells in one or more organ systems(1). This is a very rare and complicated disease. In fact, many medical professionals have never heard of this group of disorders or know how to treat it.

Links to various medical definitions from reliable sources such as The Mayo Clinic & The Cleveland Clinic can be found in the tab above “What is Mastocytosis?”. Here is a definition from a average person who does not speak in 10 syllable Latin words.

Mast cells are a part of the immune system, everyone has them. They are best known for allergies and anaphylaxis. If you have ever sneezed when ragweed is high, been itchy after mowing the grass, or had hives, you have experienced a mast cell reaction. When working properly, these cells help to protect you from all sorts of dangers like infection, parasites or venom. Mast cells also play an important role in wound healing. People who have a mast cell disease have a high number of these cells or they have cells that misbehave. Mast cell diseases do have a genetic component but that change can also happen spontaneously, meaning you can pass it on or you can just get it. No one really seems to knows how you get it but it is NOT contagious.

Mast Cell Triggers

When you have too many immune cells in your body or they are dysfunctional you can become hypersensitive. Any small, common, or seemingly benign thing can trigger reactions, which wreak havoc in the life of a Mastocytosis patient. Walking out to your mailbox on a high pollen day, standing in line at the grocery store next to someone wearing too much perfume, or simply eating a pizza can all be something that could cause symptoms. Common triggers may include foods, medicine, chemical exposure, bug bites, & environmental allergens.

Mast Cell Degranulation 

This is a big term but it basically means when something triggers the mast cell part of the cell explodes. The inside of the mast cell is filled with granules of chemicals. When the cell opens up it floods the body with these chemical, including histamine, tryptase, and heparin to name a few. This short 25 second video shows an example of degranulation when the trigger of venom is in your system.

Mast Cell Reactions

Reactions can vary from a mild nuisance to life threatening and can include flushing, nausea, hives, abdominal pain, headache, drop in blood pressure, weight loss, vomiting, diarrhea, fatigue, bone pain, brain fog, irregular heartbeat, trouble breathing or full on anaphylaxis.

Mast Cell Disorder Classifications

For people with Mast cell disorders immune cells gather or pool in various parts of the body. Mast cell diseases can be categorized in several groups depending on many, many complicated factors and specialized test results. The list below is very basic and only notes the larger categories according to where the mast cells congregate.

• Cutaneous Mastocytosis involves the skin
• Systemic Mastocytosis generally involves pooling in the GI tract, other internal organs, or bone marrow
• Mast cell leukemia involves the bone marrow
• Mast cell sarcoma involves tumors.
• Mast Cell Activation Disorder, which does not involve an increased number of mast cell but rather the normal level of mast cells are easily triggered

Not everyone with Mastocytosis responds the same way, respond to the same triggers, or even struggle to the same degree. I know many people who are diabetic. Some are well controlled with diet, some require diet and medication, and some regularly found with uncontrolled numbers no matter what they do. People with Mastocytosis, just like any disease, are found anywhere on the spectrum. Although it is true that there can be very mild cases of this disease, the majority of people have major, life altering, or completely debilitating effects. Living with Mastocytosis can often mean living in a completely different world.

Immense Problems

Some of the biggest problems with having a mast cell disease include:

• Multiple symptoms are very easily misdiagnosed
• Due to misdiagnosis, people to continue suffering while only receiving partial treatment and allowing the disease to progress
• Lack of education about the existence of these disease among the public and within the medical community
• There is no cure!

I want to help educated the public about these diseases. I am by no means an expert and scientists with many high level degrees are perplexed by mast cell issues. However, I have lived with Mastocytosis since 1988 and it took until 2007 to be diagnosed. I am finishing a book about my experiences to tell every one of the many miraculous things that took place during my diagnoses and recovery time. It is my hope to raise money for research to find a cure. I hope this blog can help raise awareness for everyone and give hope for those that suffer everyday.

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1. “Mastocytosis Explained.” Tmsforacure.org. The Mastocytosis Society, n.d. Web. 28 Oct. 2013. <http://tmsforacure.org/patients/mastocytosis_explained_1.php>.