As I’ve mentioned numerous times throughout this blog, people with a form of Ehlers-Danlos Syndrome or Hypermobility Spectrum Disorders seriously win the bad health lottery when it comes to comorbidities, or conditions you have along with a primary condition. In fact, the list sometimes seems a little unreal, as it hardly seems possible a body could experience so much trouble.
But again, if I didn’t have the pleasure of experiencing several of them myself, and observe over 6000 fellow patients daily in various online support groups with every variation on the theme, I would have trouble believing it too. But it’s true. And the sooner the medical system wraps their collective brain around this painful fact, the quicker we’ll save time, money, energy and suffering for all involved. (One group now has over 20,000 in it.)
Mast Cell Activation Disorders
I think it helps when you remember that collagen runs through 80% of the body, so affects virtually every system. To borrow a phrase from MCAD savvy Dr. Afrin, a la Occam’s Razor, “do you really think there are 57 different things wrong with your patient, or maybe just a couple underlying systemic conditions that might explain it all?”
That said, one of the most common, with some of the most disabling effects yet least often diagnosed is any form of MCAD, or Mast Cell Activation Disorders , which includes the more rare forms of Mastocytosis and the newly recognized much more common, but rarely diagnosed MCAS: Mast Cell Activation Syndrome. The Mastocytosis Society just established an ICD-10 code for this in 2016 after lots of hard work. Think of MCAS as being like “extra” or “hidden” food and chemical “allergies” that traditional allergy testing cannot find. (The mast cells are not being activated via the traditional IgE mediated pathway.)
Dr. Josh Milner at the NIH actually studied this comorbidity of atopy (allergic diseases including MCAD) and connective tissue disorders (most commonly hypermobile Ehlers-Danlos) as he shared here in the summer of 2015 at the 3rd Annual Dysautonomia International Conference. (The forms of HSD weren’t invented yet.) The study ultimately found a subset of patients who have a form of Hereditary Alpha Tryptasemia (or Familial Tryptasemia), that is, a baseline elevated tryptase exhibiting a familial (genetic) inheritance pattern. (Described here and here in autumn, 2016.)
I’ve been given to understand that all with this condition are hypermobile, leading many to suspect it may play a role in hypermobility or hEDS. That said, this only explains a very small subset of the hEDS patient population still and this hasn’t been confirmed with any studies yet. (Correlation does not equal causation.) In other words, not all with HAT have hEDS, and vice versa: not all with hEDS necessarily have HAT.
Many more like myself are still very hypermobile in the absence of elevated tryptase, begging the question: what else is causing our hypermobility? And others suffer oodles of soft tissue troubles and tears, and all of the pain and comorbidities of hEDS, but are not flexible at all, and never have been. And it is unclear if all have elevated tryptase or not. (I doubt it.) And yes I was in the study.
MCAD manifests in lots of GI trouble (nausea, vomiting, constipation and sudden diarrhea), frequent urination, skins signs including flushing and various rashes including hives and urticaria pigmentosa (persistant hive-like patches that wax and wane), and all signs of the various levels of anaphylaxis, which most don’t realize comes in grades according to the number of body systems involved. (Not all is throat closing!) I’ll share more on this elsewhere, but just wanted to be sure people were aware how common we are finding it in the EDS /HMS /Fibromyalgia community. It is often mis-diagnosed as Multiple Chemical Sensitivity or porphyria. Here’s a bit on when to suspect it.
Lastly, I’ll note that there are often BOTH bio-mechanical (physical, e.g. impinged nerves, muscle tension, herniations, loose ligaments), and bio-chemical (e.g. allergy, MCAD) causes to many of our issues (e.g. headaches, frequent urination) lending to the diagnostic and treatment challenge! Don’t forget to consider both when trying to diagnose and treat. Yes, tricky! Last updated September 2020:
Semi-common Comorbidities (Unofficial)
With that, here is an unofficial list of common and semi-common comorbidities (besides hypermobility) I’ve observed in the EDS community online:
Dry eyes and blepharitis (bacterial eyelid infections), as well as retinal tears and more
A perpetual case of dishes – seriously. From having to cook only whole, unprocessed organic foods you tolerate right? (Mine are all consuming anyway…) Last Updated 03/17/19
I could actually go on, but I think that’s plenty! Hopefully this is helping to broaden people’s perspective on just how incredibly wide-ranging the effects of faulty and insufficient collagen can be. Other things that are “signs” are not listed, as they are not technically comorbidities. (E.g. stretchy skin is a sign, not a complaint, usually, as is also blue sclerae). And, I don’t want to overwhelm anyone!
I will also add that many of the above “comorbidities” are syndromes in and of themselves, and can often explain some of the other listed issues. MCAD alone can lead to many of the issues shown, as can thyroid imbalance.
Given a choice, outside of one of the very few well-trained geneticists and specialists in the world currently I’d try to work with a functional medicine doctor and/or a naturopath (functional or not) or DO (Doctor of Osteopathy) who might be willing to drill down with you to help address some of the more underlying causes of so many disorders holistically rather than trying to solve each individual issue (unless they’re show stopping or critical of course).
And, as overwhelming as this can all be, realize several things:
a) unless you’re one of the rare few with Vascular EDS or a more rare connective tissue disorder, you probably aren’t going to die any quicker than you were before you read this list (even if it feels like it, and it can feel like it sometimes alright).
And b) you need to triage and pick your battles, and address the most disabling and life-altering with your doctor first. (I would pick the top 3 issues for any given visit, they won’t have time for more).
And lastly c) be patient with your doctor – they can be just as overwhelmed as you are with so many issues to treat. They cannot possibly treat them all at once, nor should they.
I haven’t even treated half of mine – it’s not worth it. I’m focusing on my nutritional health and sleep, both of which have reduced my pain levels and joint instability greatly and improved several of the other issues. Work with your doctor to determine your best plan of attack, and lastly: do not worry! THAT will not help anyone.
Many issues can at least be mitigated (reduced/diminished) if not outright solved with a variety of therapies I’ll be getting to elsewhere. I keep telling my friends, my life isn’t over since my onset storm of 2012, it’s just different. (Oh but how!)