Anybody ever hear of mastocytosis? This is what my doc thinks I have. We're already in debt thousands of bucks that insurance won't cover; it will take at least that much again to confirm his diagnosis and rule out other problems. Any info greatly appreciated!
My husband had this disease. From what I understand, there are two forms:
Mastocytosis, which presents large reddish blotches on the skin that are raised and often itch (urticaria pigmentosa). The treatment he had for that was a UV lamp and antihistamines.
Several years later he had full blow Systemic Mastocytosis. The mast cells proliferated and attached themselves to vital organs, and ran rampant in his marrow. His symptoms varied, as did his treatment.
We contacted NORD (National Organization for Rare Diseases), and got names and phone numbers of other people with the same disease. Their symptoms (like Jim's), were all over the map.
Some people live with the disease and it doesn't progress. Others aren't as lucky. Jim died in March, 1997 from liver failure due to the massive amounts of iron deposited from all the transfusions he had to have.
We had a wonderful doctor who stayed with Jim through it all. We had a wonderful staff on his final day, they were kind, gentle, loving with Jim and with me.
My prayer for you is that this disease will not progress. I also firmly believe that attitude is IMPORTANT! I am convinced Jim lived longer because he was not going to let it sink him.
Good luck to you both.
The Following User Says Thank You to clancy For This Useful Post: chaosmrs (08-12-2012)
I am sooooo sorry to hear about Jim; I was recently dx w/tmep/mastocytosis??? I have seen the two come up on other searches etc. My dermatologist did tell me it is very rare; especially if you are dx at an older age (not child) I am 44, and trying to learn as much as I can about this tmep etc. too many mast cell; and praying it doens't become systemic. I remeber my dermatologist mentioning that a certain blood test showed that I needed to be checked at a hospital w/Dr's who are in the know of tihis confusing adn scarry dx. Again my aplolgies to Jim's family & loved ones. Take care, and I am going to post about my lupus, and tmep dx; my doctor said that autoimmune can have many little seperate conditions with you'r main dx. I'm hanging in there. You too hang in there, and keep posting; you help people so much. Just reading from other people hass helped me to cope. thanks
just an update here; I seen a dermatologist today, and he looked at my skin asked important questions, looked at some copies of lab work etc. and he wants me to see a histologist and an oncologist as soon as possible. I am really getting a little worried at this point. I have had bone pain, and headaches that go on forever. I did read that mastocytosis can cause CNS problems too. Mine is actually called telangiectasia macularis eruptiva perstans (tmep) I might have to have a bone marrow biopsy but I guess thats part of the process. Has anyone had a bone marrow biopsy????? Is it very painfull????????????? I will post with the findings as soon as I know anything. Hopefully the feferral will go through fairly quickly. Take Care. mom in California. Any input would be appreciated. John, Clancy, anyone who knows about this rare disease. Thanks
I do not have mastocytosis, however- it was highly suspected with me for many months and they were treating me with the same medications as if I had the disorder.
I had many of the same symptoms. I had a horribly high prostaglandin D2 level that continued to elevate, however- my tryptase level never elevated at all.
It was suspected that I had systemic mastocytosis. They are still keeping close watch on my lab levels.
I did have a bone marrow biopsy. They are not fun. If you can convince the physician that is doing the biopsy to give you a nice sedative or even conscience sedation (like they give in the GI lab- doing endoscopies or colonoscopies)-- then it is so much easier. One positive, it is very quick-- but there is a huge pressure when they enter the actual marrow because that part can't be fully anesthesized.
I hope this helps answer some of the questions. I will check back in and hopefully be able to answer some more questions if you have any.
Iím not too sure of all tour symptoms or your knowledge of this disease. There are 2 different basic forms and I suspect they want to rule out Systemic which is the internal form of this. There are a few tests for this and I believe the rules that they set for making a definite diagnoses state they have to meet two of these tests positive before making a definite diagnoses??? Anyway, they may test you if they havenít already for some of these. BETA Tryptase not just tryptase. Many labs or docs donít know this or know how to do it. Urine histamine is also used at times. In cutanious mastocytosis they do a skin biopsy. Some people can have just cutanious some just systemic and some both. Unfortunately the most somewhat accurate needed to rule out systemic is the bone marrow biopsy. It is very important that they do the right lab tests on that too with the right dyes ectÖ As far as the from bone marrow biopsy pain. I may be the wrong one to ask because of worse pains from other things. I have heard reports from many others good and bad about that. I found it uncomfortable and not too bad. I was put to sleep with some mild drug. I woke in the middle of the procedure though. You will be fine and Iím glad to here that you are going to do it though. Too often I here of people putting off this procedure out of fear. Thats insane. I am also a little concerned to here about the headaches and bone pain. Where is the bone pain mainly at if I may ask? Please keep me posted.
I don't mind you asking at all; I actually started having bone pain in my thigh area; and that is where I have the most scarring/brown type marks left from the degranulation of the mast cells. This has really been a roller coaster for sure. I am now realizing that I may have been mis dx. with having fibromyalgia. I know it's real the fibro; I have friends who have it, but now that it has been a few years.......Sjogrens Syndrome came into the picture as well as borderline lupus. So I do know how the heat, and being hot can be. It can make you feel totally sick. I have to be in the shade at baseball games etc.. (both of my sons play) they are 16&18 almost 19 years old. The TMEP I was dx with is really hard emotionally. I was told yesterday to see a hematologist, and an oncologist. I am thinking positive, but it's soooo hard to do. The dermapathologist who I seen after seeing a rheumatologist (due to the rash/scarring etc.) and joint pain, headaches etc.. is the one who did the two biopsies. She then sent them to the Mayo Clinic. The report came back as TMEP.....at first she thought maybe uticaria hyper pigmentosa. I too read where this is an orphan disease. very rare. But if we stay educated we can help each other. Did you mention on another thread that you were 19?????? If I may ask what led to the dx of mastocytosis????? Systmeic????? This terminology is still fairly new to me so;excuse the errors or spelling I hope you are feeling ok, and everyone with this type of mast cell condition stays positive!!!! Take Care~~~~~~~oh yeah I went to the Mastocytosis Society web page, and that is wher I found listed under Masto; TMEP. I hope it stays cutaneous. Keep posting so I will know about treatment etc....for you, and anyone elso with this going on. Medications etc.... knowledge is what we all need.
I know what you mean about this disease but I felt that it was even more important to me to find the top docs and private researchers in the country. I also found that it was important for me to know everything I could about this disease since most docs never heard of it. I have devoted hours every day to research for almost a year. It now is my personal belief that if and when someone finds more ways to work with and study this disease they will find better ways of treating most or all allergies and auto-immunes diseases. If you look back on some of my previous posts you may see why. This site wont allow duplicate writes or cut and paste so I can ask you to look up one of my old replies to someone. Go to the very first box of the main health board box called Open to all health related topics. Go to page 3 as of today and find a topic called lupus fibromyalgia and MS. The reply I am speaking of is on 05-28-2005 This may start to help you know what may be happening to you with all these diagnoses and why they want to go further with you. Good luck and write me any time.
John, just wanted to ask how you are feeling????? what are your main symptoms???? I don't want to be a downer but, I'm just curious if we have any of the same symptoms. Did you mention a while back that you have systemic masto????? When I was first dx. the dermapathologist put me on two different meds. zyrtec, and atarax. The atarax I took at night (knocked me out) the zyrtec game me some stomach problems. I stayed on the meds as long as I could, about six months, but now I take benadryl before bed. I was waking up with hives really bad at night??????? Then our family was going back on Kaiser (hmo) so......I don't even know how much of the diagnostics etc. is going to be covered. I better make some phone calls before paying the $20.00 copay etc. before I see all of the Dr's. I want to know if they treat masto. I too try to stay educated on treatment etc. what is your opinion on the mast cell stablilizers???????????????? any way just saying hi, and hoping you are feeling ok take care, and I will post again. I am thinking positive, but it sure is hard. any more info you can share would help; if you get a chance
Thank you so much for your concern for me too. I am O.K but have been better for sure. I still am a little unclear if you have been diagnosed for systemic masto yet. Bone marrow biopsy, and tryptase levels ectÖ??? It is also important to point out that I write people with this disease weekly and many were mis diagnosed at first simply because most doctors and labs do not have the experience or the means to do these tests properly. I understand your concerns and fears believe me. I have met quiet a few people with this over the internet from all over the world. I am always very careful of listing my symptoms though because although there are many far worse off than me I have only wrote to one of them who was worse than me. Especially at my age. I am almost 42 so I am around your age.
I would like to post better places for you to go and talk to others like us with just this specific disease but I am not allowed to do that on this site for some reason.
I just found this cite. My 12 year old daughter was also diagnosed with what sounds like the same type of mastocytosis. We've been struggling to find a "treating" doctor. We, too, were told this was extremely rare. She has the brown spots on the right side of the trunk of her body. Some go away and others come. Every time she goes to the doctor, they take pictures of her "spots" - none of the doctors have ever seen it before. Recently, she started complaining of bone pain (legs, hands and wrists), headaches, and chills. She's had chronic stomache pains and diareha for years. She saw a peds gastrointologist, who found borderline excess mast cells in her intestines, but all her blood work came back normal (thank goodness!) and has now been referred to an immunologist. Her doctors are at UCLA.
It's nice to know we are not the only ones out there searching for answers.