The Mastocytosis Society,Inc. Information Sheet for Patients and Caregivers
This is a brief introduction for new patients and doctors who are unfamiliar with the management of mastocytosis. The information presented here, combined with that available in the cited references, provides a starting point from which to approach understanding, treating, and living with this rare disorder.
Mast cell disease, or mastocytosis, is characterized by the proliferation and accumulation of mast cells in a variety of tissues and can affect either sex at any age. Definite diagnosis is made by demonstrating an abnormal accumulation of mast cells in a biopsy, usually of the skin and/or bone marrow. Other causes for symptoms should be ruled out, and blood and urine testing for mast cell products may be suggestive of the diagnosis. When performed properly by experienced personnel with access to current information on recommended protocols the results of these tests will be useful in diagnosing and evaluating mastocytosis.
Mast cells are widely distributed in nearly every organ of the body, mainly close to blood and lymph vessels, nerve endings, and skin and mucous membrane surfaces. They develop from immature cells produced in the bone marrow, which migrate to the tissues where they mature.
Mast cells produce various chemicals which normally serve protective, inflammatory and regulatory functions as they interact with white blood cells and tissues. In mastocytosis these chemicals, or mediators, are abnormally abundant and cause symptoms.
Mast cell products (mediators)
Some mast cell products are stored in granules within the cell, and others are produced in response to stimulation by the immune system or by drugs, chemicals, or physical factors. Below is a table of some factors which can cause mast cells to release their products. Stress, strong emotions and estrogen can increase their effect.
The products present in granules and ready for immediate release on stimulation include histamine, heparin, tryptase, and chymase. These chemicals cause, and to some extent regulate, allergic and inflammatory changes, and are involved in tissue building or repair. In response to immune system activation of the mast cell, arachidonic acid within the cell is converted into prostaglandin D2 and leukotriene C4, which restrict air flow in the lungs, stimulate mucous formation, and attract some kinds of white blood cells.
Mast cells also generate several cytokines, which are proteins that interact with white blood cells and tissue cells to continue the allergic or inflammatory response.
Symptoms
The symptoms of mastocytosis vary from person to person and may occur as "attacks" or as simply fatigue and a feeling of ill health. Over time, symptoms may become more frequent and more severe. The rate of progression differs from person to person, and there may be an improvement in symptoms for long periods of time. The type and severity of symptoms can also vary greatly from person to person or from one episode to the next. Often, seemingly unrelated symptoms comprise an individual's personal pattern of mastocytosis. These may (or may not) include: flushing (temporary skin redness), itching, hives,bruising, and skin sensations such as tingling. Other symptoms experienced by many of the people with mastocytosis are nausea,vomiting, abdominal cramping, occasional or frequent diarrhea, and excess stomach acid or ulcers. The person may experience unexplained fractures, mild to severe pain in bones, joints, or muscles, enlargement of liver or spleen, bladder pain, heart palpitations or rapid heart beat, chest discomfort, shortness of breath, light-headedness, fatigue,weakness, weight loss, respiratory symptoms including asthma. There may be depression, poor memory or irritability; also intolerance to heat or cold or to a change in temperature. Other symptoms include headaches,fainting or near fainting, and recurrent anaphylaxis.
Treatment
Because there is not yet a cure for mastocytosis, treatment is aimed at reducing the frequency and severity of the release of mast cell products and at countering the effects of mast cell products which are inevitably released. Most patients will achieve relief of symptoms only by employing measures in both areas.
Avoidance of the factors which are known to cause a reaction for the individual patient, and cautious evaluation of other factors, such as those listed in the Table below, are important in the management of mastocytosis.
In using drugs to counter the effects of mast cell products,treatment must be tailored to the individual patient. Most commonly, H1 antihistamines such as chlorpheniramine or hydroxyzine are used to decrease the skin symptoms, vasodilation and mucous secreting actions of histamine. Stomach symptoms generally respond well to H2 antihistamines, such as cimetadine or ranitidine, which can also help reduce skin symptoms.
Aspirin or other non-steroidal anti-inflammatory drugs, if tolerated by the patient, provide relief from flushing and lightheadedness by blocking the body's production of prostaglandin D2. These drugs can cause unexpected severe reactions, though, and their use must be instituted cautiously under careful medical supervision.
Cromolyn (disodium cromoglycate) is a mast cell stabilizing drug which is frequently effective in reducing skin and gastrointestinal symptoms as well as mental and other systemic systems.
For severe diarrhea or malabsorption, collection of fluid in the abdominal cavity, and continued anaphylaxis which fails to respond to other measures, systemic corticosteroids may be required.
People with mastocytosis should carry injectable epinephrine, and they should know how to inject themselves if necessary to treat anaphylaxis.
There are other medications which may provide symptomatic relief if the ones mentioned above are ineffective or undesirable for a particular patient. No new medication or remedy should be started without careful consideration and close supervision, in case of an unexpected reaction.
Prognosis
It is not yet possible to predict the course of mastocytosis in any individual person. When involvement is limited to the skin, symptoms may improve or clear entirely, but it is also possible for the disease to progress to the systemic form. In about half the young children affected, symptoms disappear as they reach adulthood.
When the mast cell infiltration is systemic, symptoms may progress slowly over many years or may suddenly increase temporarily or permanently. The patient may even progress to the more serious categories of disease.
For the small percentage of patients who develop an associated hematological disorder, the course varies, and the prognosis depends on the associated hematological disease. ( 2 )
It is very important for the patient and the doctor to maintain good communication and to work cooperatively to achieve the best possible symptom control. Communication with other doctors caring for mastocytosis patients, and with other persons who have the disease, is important in order to maintain a support and information network. The affected person, or the child's parents, should strive to become educated about mastocytosis and to be aware of their individual needs and responses to triggering factors. A recognized medical warning device, such as a MedicAlert bracelet, should be worn, and extra caution is needed when undergoing dental work or surgery.
The Mastocytosis Society provides education and support to people with all forms of mast cell disease and their doctors, encourages research, and hopes to help find a cure for the disease. The Society also maintains a list of consultants who are available to advise professionals caring for a mastocytosis patient. Because of the rare nature of mast cell disease, we encourage doctors and patients to register with the Society in order to facilitate the communication and information exchange which will hasten the achievement of a cure.
Classification (adapted from (1) )
The following is a useful classification of the kinds of mastocytosis.
Cutaneous mastocytosis: Skin involvement only. This may include:
Urticaria pigmentosa: The typical rash of mastocytosis in the skin.
Solitary mastocytoma - a clump of mast cells restricted to a small area of the skin.
Diffuse cutaneous mastocytosis - skin involvement without urticaria pigmentosa or telangiectasia macularis eruptiva perstans (distinctive patches of discolored skin with small blood vessels on a reddened background. If the skin is heavily infiltrated with mast cells, the release of large amounts of mast cell products may cause systemic symptoms.
Systemic mastocytosis with or without skin involvement: Mast cell infiltration of at least one internal organ (like bone marrow or gastrointestinal tract). (2)
Mastocytosis in association with hematological disorder, with or without skin involvement: For example: leukemia, lymphoma, and myelodysplastic or myeloproliferative disorders.
Lymphadenopathic mastocytosis with eosinophilia, with or without skin involvement: Enlarged spleen and lymph nodes, infiltrated with mast cells, along with a blood count high in eosinophils.
Mast cell leukemia: This is rare but is the most serious form of masocytosis. The treatment and course of the disease is dictated by the leukemia.
Table of mast cell degranulators (adapted from (3) )
Allergens and other immunologic stimuli
Exercise
Physical stimuli (heat, cold, sunlight, friction, pressure, vibration)
Bacterial toxins
Venoms (snake and insect, especially bee and wasp stings)
Biologic polypeptides (released by intestinal roundworms, jellyfish,crayfish, and lobster)
Polymers (Compound 48/80, dextran)
Drugs: Aspirin, alcohol, narcotics (codeine, morphine), polymyxin B,amphotericin B, D-tubocurarine, quinine, iodine-containing radiographic dyes, scopolamine, gallamine,decamethonium, reserpine.
References:
1. Dean D. Metcalfe. Classification and Diagnosis of Mastocytosis:Current Status. J Invest Dermatol 96: 2S-4S, 1991.
2. Linda Golkar, Jeffrey D Bernhard. Seminar: Mastocytosis. Lancet 1997; 349:1379-85
3. Jack Longley, Thomas P. Duffy, Steven Kohn. Continuing Medical Education: The mast cell and mast cell disease. J Am Acad Dermatol 1995;32:545-61
Last update 6th December,2004
11 comments:
I'm sorry your family isn't well. Have you ever tried a product called Umcka? They make it with and without alcohol, in liquid and chewable form. Here's the website (I'm not affiliated) http://www.naturesway.com/?zid=110 and they list ingredients.
I found this a few years ago when I had a horrible case of bronchitis. A sales woman in a health food store turned me onto it. I get it at whole foods now.
Oh, and let me say that I'm a leaker - not a shocker so please use caution.
Feel better!
I'll have to read up on that Foxxy thanks. Most meds these days have preservatives or alcohol.
Thanks again for the info going to go read now.
my father just got diagnosed with mastocytosis and is not handling it well. The doctors have told him that there is nothing he can do and to have his blood checked every month since it is causing him to be severly anemic and weak. He has been in and out of the hospital for a month. He has horrible pusules that have broken out all over his body and his spleen has not lowered in size. Not one oncologist or "specialist" says there is really any hope for him and are not trying to help him find what his "triggers" are. I am so confused about this disease and am wondering if you know of any good doctors or references that I can share with him...thank you!
Castells, Mariana C., MD
Brigham and Women's Hospital, Rheumatology, Immunology and Allergy
75 Francis Street
Boston, MA 02115
Phone: (617) 732-9850
Akin, Cem, MD, PhD
Allergy and Immunology
850 Boylston Street, Suite 540
Chestnut Hill, MA 02467
Phone: 617-278-0300
My Doctor is: Srdan Verstovsek, MD, PhD
1515 Holcombe Boulevard
Houston, TX 77030-400
Office: (713)794-4297
All these Doctors have treated hundreds of people like your Dad. I hope you are able to help him. Don't give up once he has a Doctor that will listen to any of these above Doctors he'll begin to feel better.
Best wishes,
Kevin
thank you so much kevin! i knew there had to be doctors out there who have treated people with this. i just couldn't believe that even a specialized at UCLA had NO info. on this disease or how to control it and he had treated someone with it! it is unbelievable. i will definetely contact these doctors and hopefully we can get some answers. i am hopeful now he can start feeling better. much, much thanks...
hi again kevin,
sorry to bother you again but I tried calling the number you gave me for the doctor in TX and it was a fax number. Do you have another # for their office?
thank you!
NP, looks like I did give you the wrong number. Here is the correct number, if he's not able to help maybe he'll know a Doctor who can in your area.
Dr. Verstovsek Office:
(713)745-3429
Wish you the best, let me know how things go.
Sincerely,
Kevin
Hi Kevin. My name is Robyn and I was diagnosed with indolent SM in 2008. I am 33, married, with 3 children. I live in Idaho and have to travel to Salt Lake, Utah for doctor visits.
I was sick ALL last winter, and went through a bunch of different antibiotics that never really made me feel better. I am now sick again and heading to Utah this Thurs. Is this common to be ill all cold and flu season? I have been running a fever for over 2 weeks, and I have headache, bodyache,ect.
I don't know what to say or ask my doctor. I usually try to be positive and power through with strong will and vitamins. However, I am very frustrated as I don't have the right questions or answers and I am left feeling alone and really down.
I was relieved to find your blog. It's good to know that there are others! I have been to the society page and have not found anyone else in the region with this disease. If you have any insight on the doctor visit, please let me know. My email is robynprouse@yahoo.com? phone #is 208-552-1090. Thanks -Robyn
I've noticed that when I do get a cold or flu (which surprisingly is not as often as my friends) that I will usually get a secondary infection (ear, sinus, lung) much faster or easier than any of my friends. It sucks. I feel like I'm still congested from when I had a cold a month ago. Oh, I bookmarked your blog :)
Hi Kevin- I enjoyed your blog- I don't think my previous comment posted, so I am trying again. I am 2 years into my masto journey and I like your blog. I have a blog too at www.thebreakoffdawn.blogspot.com and yes it is "off" that's the problem with typing too fast and not checking better, so now I am stuck with it! Dawn Pongon
I have cutaneous mastocytosis and it only affects my skin. What medications can I take to relieve rashes, flushing, and patches? Thanks
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