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

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.  

Heather

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    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

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????

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!

Thank you all.

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