Ehler Danlos

Ehler Danlos is a connective tissue disorder which is often comorbid with mast cell disorders (and others, like POTS). Like mast cells, connective tissue is EVERYWHERE, so symptoms of faulty connective tissue can appear ANYWHERE, and symptoms differ greatly between cases.

Also like mast cell disorders, EDS is often a challenge to diagnose, is likely not as rare as initially assumed, and has an unfortunate shortage of knowledgeable practitioners.

If you have a symptomatic mast cell disorder, it would be very strange to assume your connective tissue were not compromised in some ways, at least during reaction events. This is, after all, where your mast cells are. It’s not the purpose of this site to consider which one is a “primary” diagnosis, if they both are, or if the underlying cause is actually flying spaghetti monster disease that encompasses all the trifecta issues and common subdiagnoses (but someone else really should get on that).

There are several “subtypes” of EDS. A few things about typing (keeping in mind “typing” is very much still in the pterodactyl age of genetic advancement):

1) Hypermobility type (type III) is most common.

2) Hypermobility type is also the most common with mast cell disorders and POTS.

3) Hypermobility type, in a way that gives me a headache, in many men does not look like hypermobility, and the same goes for several active women who occasionally suffer from what appears to be the opposite of hypermobility due to overcompensation of muscles around certain joints.

4) Hypermobility type has not been linked with associated genes, so it will not flag in a genetic test. While there is a new test for a proposed gene, it is not yet widely available.

5) Most newcomers to EDS initially believe they suffer from vascular type, and there’s a lot of scary information online about it. There is a simple DNA test to identify vascular type, and the usual precautions apply. I can only say that I know people in their seventies and beyond definitively diagnosed with this type.

It is my understanding that patients with ANY type of EDS should be referred to cardiology to be evaluated with a simple, contrast-free echo to screen for aortic root dilation (which, when problematic, is typically treatable) and monitored appropriately at regular intervals as suggested by a qualified cardiologist.

While there is no direct treatment for any form of EDS, sometimes, high doses of vitamin C and other collagen support are considered as a potential supportive treatments (C supports collagen synthesis, though finding sourcing which patients tolerate can often be a challenge), and there are some more important general recommendations and precautions most EDS patients are advised to follow: practicing certain exercises (the Muldowney protocol) to help stabilize joints, avoiding high impact sports, avoiding heavy lifting, avoiding straining at stool, and taking special precautions with dental work, surgeries, and so on. They are also particularly advised to avoid chiropractic work, especially the cervical (neck) area, as this frequently leads to “silent” injuries like dissected arteries and strokes, and to avoid many forms of yoga/stretching. As you would expect, pregnancy is also a considerable risk to the Ehler Danlos patient, both with respect to risk of cervical incontinence and uterine rupture as well as prolapsed organs and the almost certain damage hormones (relaxin is caused relaxin for a reason) around the time of birth cause throughout the body that an EDS patient is less able to repair. Please discuss your case with a high risk obstetrician familiar with these disorders if you are considering a pregnancy.

Connective tissue problems can affect any number of organ systems, and so Ehler Danlos has a number of common comorbidities (or at least subdiagnoses). Many patients suffer from chiari malformation (which is often sub-clinical, or at least very difficult to catch when stationary in an upright MRI) or cervical instability, for example, and I have yet to meet an EDS patient who does not suffer from some symptoms of gastroparesis at times...but the same mostly applies to mast cell patients during reactions. I’m not in a good position to speculate as to how causation works in complex disorders with overlapping symptoms, but I have observed that gastroparesis is beyond expected in these populations and in many cases beyond a pain in the neck. This and other EDS or MCAD chicken and egg questions are worthy of an epic novel.

RE gastroparesis: In addition to appropriate mast cell treatment (gastroparesis triggers mast cells in the stomach, and mast cells trigger gastroparesis), putting most foods in blenders and eating only soft things (no stringy fiber, difficult to digest meats in meaty form, or leafy greens unless pulverized), eating smaller meals, slow movement after eating, and heat are common symptom helps. Some also require zofran for these symptoms.

In my experience, patients either receive information about EDS with the immediate assumption they have vascular type and are on the cusp of death as we speak (from reading online) or with the chronic disease warrior’s most common defense mechanism, which goes something like this: “I’m sorry, I have reached my cure-free disease limit. Also, that one sounds complicated and, from what I’ve read, potentially scary. So I reject this proposed trade for the current 50 things I have that do not have names, because things without names do not go on my chart or sound scary and, as I mentioned, I have exceeded my number of cure-free diagnoses. Good day.” Both of these responses are understandable, though of course it would be better if appropriate precautions could be taken and such a diagnosis might lessen, rather than add to, a patient’s stress.