The Disease Trilogy

Well, it’s actually a disease quadriology but that didn’t sound quite as good 😉  What on earth am I rabbiting on about now you ask yourself?  Good question, and one I ask often lol!  I’m talking about:

MCAD, hEDS, POTS & M.E. 

which we now know, in some patients, have a bad habit of occurring together.

Mast Cell Activation Disorder/Syndrome (MCAD/MCAS) is a fairly rare disease, although not as rare as previously thought.  There are no statistics available, but mast cell disease is estimated to affect roughly 1 in 2000 people.  When the patient has hypermobile Ehlers-Danlos Syndrome, however, this shoots up to an estimated 1 in 10.  There is obviously something about having hEDS which affects our mast cells in a way that isn’t seen in the rest of the population, which is why I can get arsy about non-EDS patients talking about ‘curing’ or treating MCAD like it applies to everyone – their disease pathway is not the same as my disease pathway.  This is important.

We don’t yet know why people with hEDS are massively more at risk of also having MCAD, but Professor Anne Maitland (Immunologist specializing in hEDS +MCAD) has the following theory: mast cells live in connective tissue.  In hEDS the connective tissue is faulty and in some patients this leads to incorrect messages being sent to the mast cells, making them behave inappropriately.  Dr Maitland is brilliant and in 2016 did a free webinar on hEDS and mast cell disease which is well worth a listen.

On the flip side, MCAD can affect our collagen and make it more stretchy.  I’ve had people comment on my blog that treating their MCAD has ‘cured’ their hEDS and, while I’m happy for them, they are mistaken.  hEDS is much more than having flexible joints so if that’s the only symptom you have you didn’t have hEDS in the first place.  You had lax ligaments as a symptom of MCAD, so treating your mast cells will have had a beneficial impact on your over-bendy joints.

To clarify: in patients with MCAD minus hEDS, misbehaving mast cells make otherwise normal collagen faulty.  In patients with MCAD plus hEDS, faulty collagen makes otherwise normal mast cells misbehave.  So in the first instance, the mast cells are driving the disease, whereas in the second instance the collagen is driving the disease.   In those patients without hEDS, if you can get the mast cells under control the collagen should improve.  But in patients with hEDS there is no effective treatment for the underlying collagen disorder, and without that the mast cells are going to remain overactive.  Yes, hEDS patients can still take mast cell stabilizing drugs but although that may help to control the overactive mast cells it won’t ‘cure’ MCAD, because the mast cells are being driven by faulty collagen for which there is as yet no effective treatment.   I hope that makes sense because I’m ridiculously brain fogged today!

There is increasing recognition amongst doctors in the know that POTS (postural orthostatic tachycardia syndrome) can go hand in hand with MCAD and hEDS and in 2015 a small research study was carried out by Dr Vadas on this very subject.  An estimated 80% of hEDS patients will have POTS and an estimated 1 in 10 of those will also have MCAD, so it’s not an insignificant issue.  Quite why some people have all three diseases no-one knows, but it is a subject a small handful of Doctors are thankfully looking into.  I personally don’t have POTS (ie an increased heart rate when I stand) but I do have Orthostatic Intolerance whereby standing and even sitting for any length of time makes me feel ill, faint, weak and very mentally confused.  There is a good article on both POTS and OI here.

What’s being left out of the current research is the link between hEDS, POTS, MCAD and M.E.  “Chronic fatigue” is talked about but chronic fatigue is not M.E. (although I appreciate M.E. is called CFS in the States).  Most people with M.E. have orthostatic intolerance or POTS – it’s a characteristic of the disease.  And, as my readers know, I think M.E. is a type of mast cell disease.  My reasons for thinking this are:

  • M.E. follows a viral infection.  Mast cells can be chronically activated by viruses.
  • M.E. has many hallmark symptoms of MCAD, in particular fatigue (mast cells affect the mitochondria), brain fog, problems with cognition, sense hyper-reactivity (ie light, sound, touch) and we now know that the sensory part of our brain called the Diancephalon contains mast cells, ‘allergies’ (the more severe the M.E. the more allergic-type symptoms such as reactions to smells, pollens, chemicals, drugs, foods), muscle twitching/dystonia (mast cells affect smooth muscle contraction), IBS-like symptoms (our GI tract is packed with mast cells), pain (mast cells live next to sensory nerves), sleep disturbance (mast cells affect the sleep/wake cycle).
  • Worsening symptoms at menstruation and menopause (mast cells react to hormones),
  • Improvement during pregnancy.
  • Improvement in symptoms have been seen in some M.E. patients when taking high dose Vitamin C or Tricyclic antidepressants (both are used to treat MCAD).
  • Recent research has shown the drug Rituximab can help in M.E.  A similar cancer drug has been found to be helpful in treating MCAD.  Both drugs work on b cells.
  • Stress worsens M.E. (mast cells live close to nerves, in particular the nerves which release corticotropin-releasing hormone (or CRH). CRH is a hormone which is released in the ‘flight or fight’ reaction when the body is under stress).
  • See more about M.E. and mast cells in my Canary post.

There is a recognized subset of M.E. patients who also have hEDS, and nearly all have either OI or POTS.  In addition, there is not a single one of my many moderate/severe M.E. friends who don’t have some kind of allergy, whether it be asthma, gut issues, food intolerance, drug or chemical intolerance and none of us can tolerate alcohol.  This, alongside the symptoms listed above, scream Mast Cell Disease to me and I wish it were something researchers would look into.  Even if they just tested for mast cell mediators in severe M.E. patients it would be a start and I’d be very interested in the results.

The good news is that things have come on a long way in just the 7 years I’ve been diagnosed with hEDS and there is increasing recognition that collagen disorders, dysautonomia, mast cell disease and M.E. are in some way linked, at least in a subset of people.  This hasn’t filtered down to your average Consultant or GP, so please don’t expect your local hospital or doctor’s surgery to know anything it, but for those health professionals specializing in either MCAD or hEDS they are definitely aware of the link (even my local Rheumatologist knew that hEDS patients often present with MCAD, so if the knowledge has made it to the wilds of the lake district there is hope for everyone 😉 ).

 

 

 

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12 thoughts on “The Disease Trilogy

  1. Bea Ravn

    Some thorough and deep thinking here, Jak. Have been speculating about the links between all these conditions, too. More specifically ME and MCAD (I have POTS as well, maybe the word trilogy means each patient gets to have any three conditions out of the four – just joking).
    Is the connection :
    1) MCAD causes ME, or ME=MCAD, for which option you make a good argument. In this case treating MCAD should help ME.
    2) The other way round, the ME disease process annoys the mast cells. This would be similar to your hEDS example. Treating MCAD would help mast cell symptoms but do nothing for ME.
    3) Both conditions get set off by the same trigger but then go off on their own separate ways. Again, treating MCAD would not help the ME.
    My personal experience with MCAD medication is that it does help the mast cell symptoms but does nothing for the ME, nor the POTS.
    Only one thing is certain, it’s complicated.

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    1. Jak Post author

      It’s certainly food for thought Bea. I don’t think they are 2 separate diseases, I think M.E. is a form of MCAD (we now know there are different types, eg. prolific, systemic, cutaneous etc.).

      When I could tolerate H1 and H2 antihistamines they helped my MCAD but, like you, didn’t help my M.E. one bit. I do wonder if, in M.E., the histamine receptors involved are H3 and/or H4, for which we have no current medications as far as I’m aware. So it’s no wonder that current standard treatment for MCAD has no effect on M.E. Or whether M.E. has nothing much to do with histamine, but has more to do with one of the other 29 mast cell mediators – bear in mind we only test for 6 of these currently.

      When we use non-standard drugs, eg anti-cancer meds like Rituximab, the Norweigan trial showed a 67% reduction in M.E. symptoms compared to only 13% in the control group and a similar cancer drug which works on b-cells has been used on difficult to treat MCAD patients. It’s too much of a coincidence that these drugs, plus high dose Vit C, plus some antidepressants (which are also mild antihistamines!), plus NSADs have all been found to be helpful for some patients with ME and are also used for MCAD (not as a cure, but to help alleviate some symptoms).

      Having had ME for 23 years now, and followed all the research and theories, mast cells are the only thing that has ever come close to joining the dots for me.

      Jak x

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  2. Louise Mc Crory

    Really enjoy your blogposts ( not sure of correct phrase).
    I was diagnosed OI, amongst other things. Do you feel, like I do, that’s it’s dealt with as the poor relation of POTS?

    Lou

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    1. Jak Post author

      Absolutely Lou. It’s never mentioned, yet there is huge interest in POTS currently. My diastolic blood pressure is routinely in the 50s yet this is never mentioned when I see the Doctor. Low blood pressure is always seen as a good thing, but it causes me no end of problems and I’m sure contributes to my OI, along with floppy veins from my Ehlers-Danlos which don’t maintain upright blood pressure well.

      Glad you’re enjoying my blog 🙂

      Jak x

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  3. Laetitia Lalila

    Hi Jak, I’ve been too sick to comment lately, but I wanted to let you know that I still folow your blog and still read your posts, you are such an inspiration and my personal superhero! I find i solace and company in your writing, so thanks for keeping this blog up!
    I wish you well,
    Laetitia
    xoxo

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    1. Jak Post author

      Thanks for taking the time and energy to comment Laetitia it’s really appreciated, though I’m so sorry to hear you’ve having a rough time at the moment 😦 Being sick sucks. Healing hugs x

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  4. Pingback: Q&A with Chronic Badass CeCe Collins: Part 3 | The Barefoot Aya

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