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Symptoms of mastocytosis

By June 16, 2011 - 4:30pm

Symptoms include but are not limited to the following:
Abdominal pain
Anaphylaxis
Blood pressure changes & shock
Bone pain (mild to severe/debilitating)
Chest pain
Cognitive difficulties/brain fog
Degenerative disc disease
Diarrhea
Dizziness/vertigo/lightheadedness
Faintness
Fatigue
Flushing
Gastroesophageal reflux
Hematological abnormalities
Hives & other rashes
Inflammation of the esophagus
Intestinal cramping and bloating
Itching, with and without rashes
Irritable bowel
Liver, spleen and other organ involvement
Malabsorption
Migraine headaches
Muscle pain
Nausea
Osteoporosis/Osteopenia
Peripheral neuropathy and paresthesias
Rapid heart rate
Vomiting
Of these, I've had about 20 different symptoms on and off. In fact looking at this list, I'm realizing just how often I have reactions that I probably just ignore or have learned to live with.
Mastocytosis is often undiagnosed or misdiagnosed because the symptoms can often be attributable to other diagnoses. The treatments are also similar, so once some relief occurs, doctor and patient may not look elsewhere for explanations. Also, mastocytosis is so rare, that many doctors do not know how to diagnose or treat mastocytosis, so they focus on other, more common explanations. As it happens, I suffered from GERD and IBS symptoms, on and off, all of my adult life (about 20 years). Then suddenly, a few years ago, I notice these unusual "spots" on the top of my thighs, and no where else. At a routine dermatologist appointment, I mention the spots and he decides to biopsy them. Long story short, they come back as mastocytosis. That was four years ago. At that time, I considered myself healthy; symptom free. CT scans, blood work, and a bone marrow biopsy later, I feel like my world had been turned upside down. Add colonoscopy, panendoscopy, and more biopsies, and I have multiple organ involvement. Within six months, my symptoms are in full drive. I get hives on regular basis, I have sensitivity to heat, I have daily GI symptoms (IBS and GERD), cramping and pain, I get headaches and nausea, flushing, diarrhea, and this last year have developed pretty severe lower back pain due to arthritis and degenerative disc. I'm only 41.

By August 7, 2011 - 8:08pm

Hi Susan,

Thanks for your questions. Mastocytosis is a very complicated disease, especially since every one of us that has it, has very different symptoms and triggers.
Mastocytosis can be just a skin disease, Cutaneous Mastocytosis or Urticaria Pigmentosa, which means that the mast cells contained in the skin only are affected causing hives, itching, and often unsightly skin lesions. This form is the one most commonly found in childhood or pediatric mastocytosis. Children who develop cutaneous mastocytosis tend to "grow out of it" by puberty. Some develop more serious or involved forms.
Mastocytosis can also be systemic, meaning to involve multiple organs. This is the form that is usually found in adults, sometimes with skin involvement (urticaria pigmentosa) and sometimes without. Adults who develop Systemic Mastocytosis without skin involvement are often harder to diagnose because there are no other external indicators, such as a skin lesion to biopsy.
Mast cells are contained throughout our bodies, which is why Systemic Mastocytosis involves multiple organs. Mast cells are created in the bone marrow. An abnormal proliferation of mast cells in the bone, skin, GI tract, brain, liver, spleen, etc. contributes to the symptoms I mentioned.
There are essentially two levels of Systemic Mastocytosis--Indolent, meaning slow developing, and Aggressive. We kind of consider these a level two and level three of the disease (Cutaneous Mastocytosis being level one). Generally there is not a progression within the levels.
The fourth level, and most serious form of a mast cell disease, is mast cell leukemia, which is usually quite fatal, especially by the time an individual has finally been diagnosed with this form of the disease. Fortunately, as rare as mastocytosis is, mast cell leukemia is extremely rare, but in my lifetime I have known of several young people who have died of this severe form of mast cell disease.
Mastocytosis, as I indicated, is an abnormal proliferation of mast cells, therefore it has been classified as a neoplastic disease similar to cancer, however, other than mast cell leukemia, mastocytosis is considered benign.
Hope this better explains the disease.

As for myself, I have Systemic Mastocytosis with Urticaria Pigmentosa (skin involvement). On a daily basis, I suffer from itching (with or without hives), mild to sever bone pain, upper and lower GI symptoms, and what we like to refer to as "brain fog", which can involve trouble focusing and memory loss. Biopsies have found an increase in mast cells in my skin, bone marrow, and colon, hence the multiple organ involvement of Systemic Mastocyosis. My prognosis is good as far as life expectancy, if you consider living with daily symptoms to be a quality of life, though I know of many with this disease that are much worse off than I. I had the unfortunate incidence of anaphylaxis after eating a handful of almonds that landed me in the hospital for 10 hours about a month or so ago. I've eaten nuts all my life with no problem, but with mastocytosis food issues, if the conditions line up just right, a food that has never triggered a reaction before, can be the last straw, so to speak. SO now I have to avoid all nuts and fruits with pits for fear of another anaphylaxis episode. Fortunately, as a mastocytosis patient I do carry multiple EpiPens with me, so between that and taking Benadryl and Zantac as soon as I started feeling sick, I was probably able to save my own life. The trip to the hospital for observation ended up being just a technicality. There is no cure, but with medication, I am able to control my symptoms, at least to a tolerable level. As I said, even with the anaphylaxis, because I knew how to respond and which medications to take, I probably saved my own life, which I consider to be a good thing. Now that I know that I can save my own life, I feel more in control, however, I would rather never go through that again. Anaphylaxis is extremely scary and one of the worst feelings you could ever imagine, but I'm not dead yet, so I'm lucky!
Again, thanks for your questions and your interest. I am happy to talk to anyone about this disease. My fear is that there are people out there with this disease that don't know it. Be your own advocate and question often. Be well. Erin

August 7, 2011 - 8:08pm

Group Leader

Description

Dealing with mastocytosis, a rare, incurable disease. Mastocytosis concerns the mast cells in the body. People suffering with mastocytosis have too many mast cells and they do not work properly. Mast cells help the body to fight off foreign substances. They are most commonly involved in allergic reactions. When a person comes into contact with an allergen that their body cannot tolerate, the mast cells release histamine resulting in symptoms. For instance, an allergy to pollen may result in runny nose, watery eyes, etc. An allergy to a lotion may result in hives. An allergy to a food can result in GI issues or be as severe as anaphylaxis. Someone with mastocytosis, with too many mast cells, can have severe reactions to triggers known or unknown. The mast cells contain many chemicals, including histamine. 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: Abdominal pain Anaphylaxis Blood pressure changes & shock Bone pain (mild to severe/debilitating) Chest pain Cognitive difficulties/brain fog Degenerative disc disease Diarrhea Dizziness/vertigo/lightheadedness Faintness Fatigue Flushing Gastroesophageal reflux Hematological abnormalities Hives & other rashes Inflammation of the esophagus Intestinal cramping and bloating Itching, with and without rashes Irritable bowel Liver, spleen and other organ involvement Malabsorption Migraine headaches Muscle pain Nausea Osteoporosis/Osteopenia Peripheral neuropathy and paresthesias Rapid heart rate Vomiting

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