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General Mast Cell Disorders Discussion >> General Mast Cell Disorder Discussion >> Can you guys help me with this? http://mastcelldisorders.wallack.us/yabb/YaBB.pl?num=1297311999 Message started by Sarah4 on 02/09/11 at 16:26:39 |
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Title: Can you guys help me with this? Post by Sarah4 on 02/09/11 at 16:26:39 I recently saw an autonomic physician up here in Canada who confirmed that I have Hyperadrenergic POTS, and he is having me do bloodwork for autoimmune autonomic neuropathy (anti-ganglionic antibodies). He told his student I was "an unusual presentation" even for POTS, and when I asked about the POTS/MCAD connection he said he had only seen one other person who seemed to have similar symptoms to mine. Over the past year I have been diagnosed with an HDCT (overlap Ehlers-Danlos/Stickler Syndrome) by Dr. Francomano, POTS and "probable MCAD". I keep trying to figure out how these all fit together and autoimmunity seems to be the common denominator so far. Dr. F has an interesting theory about why and how people with HDCTs also seem to have more autoimmune disorders, they are now looking at autoimmune causes of POTS, and Heather has been kind enough to tell me about her autoimmune testing and how it seems to be related to her masto. What I am wondering is what are the mechanics, theoretically, of how autoimmunity may cause MCAD? I have been trying to read about immune stuff in general and man, it's complicated. And yet, since this is so rare, I try not to be too clueless when I see doctors. I am wondering, could the antibodies they think might be causing my POTS be the cause of my MCAD or is it more likely that I may also have another set of autoantibodies that is concurrently causing the MCAD? I don't know if I am even asking this right, but if you know what I mean, please help! Thank you all, and I hope everyone reading this is doing as well as possible. |
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Title: Re: Can you guys help me with this? Post by chaco on 02/09/11 at 17:44:21 Hi, Sarah. Are you familiar w/molecular mimicry? If not, you may want to research it. Interesting stuff! It's been implicated in a number of syndromes and autoimmune disorders with unknown or unclear etiology. A doc in London by the name of Ebringer is pioneering research into the role of molecular mimicry in Ankylosing Spondylitis. Interesting stuff! Deb Mc |
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Title: Re: Can you guys help me with this? Post by Lisa on 02/10/11 at 01:11:32 Sarah, It was only as of September 2010 that it has been officially acknowledged that there is an autoimmune form of mast cell disorders. However, there has been absolutely NO RESEARCH into this form of the disease! Those doctors, like Dr. Castells and Dr. Schwartz have known that it exists and they work with patients who are clearly masto patients but show autoimmune markers, but they have not done any study of it. Dr. Escribano published a paper that was geared towards profiling the new MMAS (monoclonal MCAD) diagnosis, but he didn't report what the makers were with these patients. Also, although he was able to profile the non-clonal MCAD patients, he didn't say whether or not they were autoimmune. So, this clearly shows that there still is no research as to what profiles this patient and without understanding this, there is no way to know what are the mechanisms behind it. Your doctors are on their own for like mine and like Heather's and others of us who are autoimmune MCAD patients, we are all ahead of research and there is nobody to guide us nor tell us how it affects our bodies. Go ahead and inform your doctors about this, Sarah, for they need to know that unless they decide to go seeking for these answers for you, they won't have them until finally the researchers of this disease decide to begin studying our patient group. They are as likely to discover these things as any other doctor out there, so, they would do us all a great favor if they would use you as their study patient!!! Their work might end up being ground breaking and thereby give us some of the answers our doctors are desperately needing!! Both Heather and I have spoken with Dr. Escirbano encouraging him to begin studying autoimmune patients. I think he would like to and he even told the both of us that if we could make it to him, he would study our cases. Well, you know how that is, don't you?! I'd be on a plane in a heartbeat if I had the money! :( I hope your doctors will consider this! Lisa |
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Title: Re: Can you guys help me with this? Post by Starflower on 02/10/11 at 01:28:43 Hi Sarah, Autoimmune disorders arise when your "adaptive immune system" starts working too well. Instead of just forming antibodies to bacteria, viruses, and parasites (which is essential for your survival), it starts forming antibodies that recognize your own organs, blood cells, nerves, DNA, etc... Ideally, this is not supposed to happen, but it does is about 20% of the human population. In many autoimmune disorders, these antibodies destroy the target. I have Hashimoto's disease, for example, and my immune system has been making antibodies (probably for a loooong time) that have damaged my thyroid to the point where it no longer makes enough thyroid hormones to keep me functioning normally. What your doctor is looking for is antibodies that are attacking and destroying your ganglion... nerve cells in your autonomic nervous system. If you have these antibodies it would definitely explain a LOT. In some ways, the autoimmune version of MCAD that I have is a little different from most autoimmune disorders. It doesn't destroy my mast cells (or the high-affinity IgE receptors) it just causes them to degranulate... as if I had a peanut allergy. Now here's the really tricky thing... any kind of autoimmune disorder will make a mast cell disorder worse, regardless of whether they're related or not. When antibodies lock on to their targets (allergens, organs, DNA, etc...) they form "antibody-antigen complexes." If there are not too many, your body can usually flush them out with "complement" so they don't cause any further damage. People with lupus or a severe infection (TB, malaria, AIDS, etc...) are making so many antibodies that their complement system can't keep up. So... the complexes get stuck in predictable places... joints, kidneys, heart, lungs, small blood vessels, ciliary body of the eye, and choroid plexus in the brain. This causes joint pain, headaches, petechiae, kidney damage, and sometimes worse (heart failure, seizures, etc...). The goal of treatment for lupus is to reduce the antibody production so you're not making so many complexes. That can work for someone like me too... it's the next step if I start feeling bad again. Now here's the part that a lot of doctors don't know... the combination of a mast cell disorder (any type) and autoimmune disorder (any type) is going to make your symptoms worse. There are a couple of reasons for this. One is because all the histamine and leukotrienes make those antibody-antigen complexes really sticky. Even if you have normal levels of complement (like I do), you can still get that joint pain, kidney damage, headaches, etc... Another reason is because when our mast cell degranulate they release cytokines... these cytokines stimulate the production of antibodies, including autoantibodies. It can turn into a really vicious cycle! It's GREAT that your doctor is thinking "autoimmune." Even if you can't pinpoint the antibodies that are causing the problems, you might be able to get some relief from treatments that reduce the production of antibodies... immunosuppressants (more than just steroids), IVIG, or even a monoclonal antibody like Rituxan. I hope this answers your question. It IS complicated... just keep reading and it will eventually make more sense. :D Heather |
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Title: Re: Can you guys help me with this? Post by Sarah4 on 02/11/11 at 04:38:45 Thank you again for all the info, Lisa and Heather. It's scary to have something that is beyond the edge of medical science at this point. The only interest in autoimmune issues at this point is from the POTS doc I saw, and he seemed to been only vaguely familiar with MCAD. I really need a doc up here who has heard of it, or will have to figure out a way to get down to Dr. Castells. |
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Title: Re: Can you guys help me with this? Post by Starflower on 02/11/11 at 04:55:01 Sarah4 wrote on 02/11/11 at 04:38:45:
Tell me about it! There are days when I actually think it's kind of cool 8-) Then there are days when it's terrifying >:( Because really... there are very few doctors in the the world who truly understand what I'm dealing with. What if I end up in the hospital?? What if my insurance refuses to pay for "experimental" treatments... my whole disorder is experimental!!! This is when you really need a GOOD DOCTOR. Even my own, very intelligent husband doesn't get it... and I've stopped expecting him to. Heather |
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Title: Re: Can you guys help me with this? Post by Sarah4 on 02/11/11 at 05:05:09 I know exactly what you mean, Heather - some days I think to myself that this would be really interesting, if it was happening to someone else! I am looking for that good doctor, but since I live in a medically underserviced area, I'm not holding my breath. Do you see Dr. Castells? I have been trying to think of what to write when I email her; I want to know if she has a colleague in Toronto who might have a clue what it means if I bring in that POTS/MCAD article and say "Whatever this is, I have it". I find it really hard to travel, but if she can't think of someone in Toronto, I was going to ask if she might be able to see me in the summer, which is the only time my husband would be able to drive me. When it comes to husbands understanding, it has helped me a lot to be able to put a name to the symptoms and disorders. I have been getting sick for years and it caused us intense marital and family stress, especially when I was at the point where I'd say "I don't know why, but I can't stand up long enough to make the kids' lunches anymore". But we hung on, and now that I know what POTS is (and am trying to figure out MCAD), it helps him help me a lot. Also, once my POTS got so bad that I literally couldn't stand up, he could better see how severely this is affecting me. I'd love to know why some people with MCAD don't have POTS, and others do. Again, thank you Heather. |
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Title: Re: Can you guys help me with this? Post by Lisa on 02/11/11 at 06:32:29 I'll bet you a thousand dollars Sarah that the masto doctors would like to know that answer too!!!! I'll bet you anything I win the bet!! ;) So, funny! I was talking with my husband this morning about this very situation about being ahead of research!! haha! I got an email from Dr. Castells last night. She doesn't reply very often so her replies really stand out! Last year, in preparing for my open heart surgery she made some adjustments to my meds adding singulair to them. Well, I'd also read a research article on mice and abdominal aortic aneurysms and came to some conclusions about my case and that I needed to increase my mast cell stabilizers. So I asked her if we could and she took them from 2mg a day to 6mg a day. The research showed that mast cells are involved and that the degranulation of them makes the aneurysm weaker and that cromulyn helped to keep the aorta tissue stable and that it was proposed that this could be a means for treatment for aneurysm patients. Well, we all took this to heart, Dr. Castells, my cardiologist, Dr. Basson at Harvard (an authority on hereditary aortic aneurysms) and me. Yet I was the one to propose this, the others didn't. Well, I found some recent research the other day coming out of Sweden that took this one article and did further testing and they found that not only MC stabilizers were good, but also LEUKOTREINE AND ANTIHISTAMINES BLOCKERS were indicated for these patients!! HA! I'M DOING THIS ALREADY A YEAR AHEAD OF THE RESEARCH!!!!! So, how's that for being a FREAK SHOW PATIENT???? :o :D |
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Title: Re: Can you guys help me with this? Post by Sarah4 on 02/11/11 at 08:48:08 It's crazy how all this stuff overlaps, Lisa. I didn't know you'd had an aneurysm (scary). The geneticist who diagnosed my hereditay connective tissue disorder told me that was one thing I should be screened for regularly. How strange that mast cells are involved here too. I did read one post somewhere about trypase being involved in collagen gene expression. It is weird to be right on the edge of this stuff, but I'm glad to have found this forum, that's for sure. |
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Title: Re: Can you guys help me with this? Post by jbean on 02/12/11 at 10:30:48 Yes, it is all intertwined an incredibly complicated at some points. I've been working in Immunology professionally for years, and the whole thing is one giant hairball. One can only "scratch the surface" , and we learn more each day. I can only absorb it a little bit at a time before my brain does a twisty! |
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Title: Re: Can you guys help me with this? Post by Riverwn on 02/13/11 at 05:42:31 Sarah, just one point here. I love to research articles on the www too that explain things I want to know about.. Ive found that the best place to find the answers in the NIH websites. Good luck Hon, Hugs, Ramona |
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Title: Re: Can you guys help me with this? Post by Sarah4 on 02/13/11 at 07:52:26 Thank you all. |
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Title: Re: Can you guys help me with this? Post by Lisa on 02/13/11 at 15:49:24 Sarah, Those of us with comorbid hereditary diseases may have our situations put into more risk due to the masto! Although the masto may not be at fault for the condition, it doesn't mean that it doesn't have an influence regarding it. My aortic aneurysm is hereditary. My father and aunt died from theirs. However, research proves that mast cells are involved in aneurysms - they don't know why, but they are. When I realized what my situation was with the masto, it forced me to seek out authorities in hereditary aortic aneurysms for these patients are not like regular aortic aneurysm patients - there is a genetic weakness in my form of familial aneurysms and they know that something is seriously causing our aortas to be weaker than with other patients. But I already saw that my crises had a direct impact upon my aneurysm because it grew 4mm within 6 months due to going into anaphylaxis for 3 and 4 hour bouts with hypertension involved!!! But what the research showed is that when the mast cells that are there are degranulated, they end up calling in more inflammatory cells into the ballgame too. All of this only makes the situation worse. So, yes, Sarah, your doctors need to keep a close eye upon you for mast cells have a major role in the health of the vascular system. Sarah, what exactly is your connective tissue disorder? In what form does it take? If you wouldn't mind telling me? Hugs! Lisa |
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Title: Re: Can you guys help me with this? Post by Sarah4 on 02/14/11 at 05:05:11 Hi Lisa- My connective tissue disorder doesn't have a name. I was seen by Dr. Francomano and she said she has seen about 6-7 families with whatever it is. She describes it as a Hereditary Disorder of Connective Tissue with overlap features of Ehlers Danlos Syndrome and Stickler Syndrome. It appears to be a collagen defect. I also feel that a doctor should be keeping a close eye on me, but instead I feel like a hot potato. I don't have one specialist in my area who has read the reports from sub-specialists and who is willing to take me on as a patient. I don't fit into anyone's area of interest and they are too busy to find time for me. Sarah |
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Title: Re: Can you guys help me with this? Post by Starflower on 02/14/11 at 05:57:09 Hi Sarah, Could you describe more about your "Stickler" symptoms and how you were diagnosed? Since I have unexplained problems with bleeding... despite having normal clotting factors and platelet function... it's possible that I also have some kind of (mild) genetic collagen defect. I looked at the description of Stickler Syndrome on Wikipedia. I have the severe nearsightedness and increased ocular pressure, but not the hearing problems or hypermobile joints. Just curious! Heather |
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Title: Re: Can you guys help me with this? Post by Lisa on 02/14/11 at 06:05:30 Hot Potatoe!! Hey that's a good description! I just call myself LISAZILLA and envision all the little white lab coats scurrying in different directions as I walk into the room! :o I can't seem to keep most doctors past 1 appointment! If I can keep them past that I feel like giving them a blue ribbon or trophy!! Can you see that? I could put a picture of Godzilla on the ribbon with my face pasted on Godzilla's head! And the trophy I'd most certainly have it made with my face on that instead of Godzilla's ugly mug!!! Too funny ;D!!! And yet sad! :'( It shouldn't have to be this way for us Sarah - any of us. But this is just how it is. |
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Title: Re: Can you guys help me with this? Post by Sarah4 on 02/14/11 at 09:49:34 Hi Heather- I was diagnosed clinically and by reviewing several generations of my family medical history, by Dr. Clair Francomano in Baltimore. I am far from an authority on the subject of Stickler Syndrome, but there is a Stickler Society at www.sticklers.org, on which they have photos of some affected people. I am typical of neither EDS nor Sticklers, but apparently have features of both: joint hypermobility (but not the joints measured on the Beighton scale), very soft skin, a high palate, near-sightedness, family history of high freqency hearing loss, POTS, etc. It seems like my features, along with my family history, create a pattern, but with these unusual HDCTs it takes someone with high-level expertise like Dr. Francomano to sort it out. However, when I look at the patient experiences of those with EDS, I have no doubt that I fit into the family somewhere. Personally, I think there are probably many people out there with more subtle manifestations of collagen defects and only the glaringly obvious EDS types get diagnosed (if even they do). But based on my converstations with Dr. F, I think the HDCT is an important part of the whole picture - for instance, she has observed that HDCT patients are more likely to also have autoimmune disorders... I saw two local geneticists, one before and one after Dr. Francomano. The first one was very nice, but did the routine EDS exam and told me I don't have it (and she's right, I don't have any of the known types). However, once I had the report from Dr. F, another geneticist became interested and examined me (and also my mother, who happened to have driven me). Now they think I might have a collagen defect on both sides of my family, which apparently would help explain the degree of difficulty I have with pain and POTS. My new geneticist is thinking of recommending me for genetic testing with a rare disease program up here, and wanted me to try to find others with the HDCT/POTS/MCAD triad of diagnoses/disorders. Based on my experience, if you think you might have an HDCT, I would strongly advise seeing someone who sub-specializes in collagen defects, or if not, taking the opinion of other geneticists with a grain of salt. Sorry I can't be more help about Sticklers though; I have been thinking of emailing someone at the society and asking if they have trouble with POTS and mast cell stuff too. I'll let you know if I find anything out- Sarah |
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