What Do You Mean EDS Is Not an Autoimmune Disease?!!*

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That EDS and HSD are not considered autoimmune diseases bugs the, well you know what, out of me. EDS is an “inherited disorder” or, as summarized in the book Disjointed (2020, pg. 17), “a collection of heritable connective tissue disorders, caused by a group of genetic variants that change how connective tissue behaves in the body.” Doesn’t sound too bad, does it? This factual but cold description is eons distant from the human being who suffers from this “collection of heritable connective tissue disorders.” It omits linking “the body” to a human being who is alive and in pain. The sobering fact is that “connective tissue” is — you, almost every bit of you. Connective tissue binds, protects, insulates, stores fuel, and transports substances throughout the body. The description doesn’t convey the fact that connective tissue is found throughout our entire body AND connective tissue is the major player in the way our mast cells behave.

Mast cells and their function

In the article “Mast Cell: A Multi-Functional Master Cell,” the authors define mast cells as immune cells “present in connective tissues throughout the body.” So mast cells, responsible for regulating a number of functions including “innate and adaptive immune responses,” are housed within the abnormal connective tissue of an hEDS/HSD patient’s body. Mast cells control if an all systems alert goes out for a perceived threat or not. They are responsible for whether or not a body “decides” to attack itself (autoimmune disease) or stops fighting infections altogether (immune diseases). When mast cells go bad, meaning they are carrying out faulty orders, they become responsible for a host of problems like allergies, asthma, anaphylaxis, GI disorders, and more. And who is involved in giving out this false data or commands? Most likely the misinformation is being supplied by the connective tissue. Not coincidentally, the list of common medical conditions found alongside hEDS and HSD is made up of conditions related to misfiring mast cells. This further supports the theory that in an hEDS/HSD patient the mast cells are working from information corrupted by the connective tissue.

Where do life-threatening asthma, food allergies, and mast cell disorders fit in?

These conditions are what the Johns Hopkins site refers to as “an overactive immune system.” This terminology in relation to hEDS and HSD puts us back to dismissive labeling. This phrase does not convey the severity of some people’s experience with conditions like Mast Cell Activation Syndrome (MCAS). Public understanding of an immune or autoimmune disease is strong. But an overactive immune system? Not so much.

Still confused?

I know I am.

Regardless of the medical labels which seem unnecessarily obscure and in flux, as far as I can tell, hEDS and HSD patients are indeed negatively affected by the unclear language. Disjointed (2020) lists MCAS under the allergy/immune specialist area. This shows that the medical establishment does agree that the term “allergy” belongs in the immune specialist arena. And perhaps MCAS is one condition that straddles that space between what we understand of an allergy and an autoimmune disease. Research in the future may break down the walls and reclassify conditions, especially if mast cells are the common denominator. But this is neither here nor there for patients needing care right now. While the research within the allergy/immune community continues, it is up to hEDS and HSD patients to understand that, yes, a mast cell disorder does involve your immune system and the connective tissue, most likely, is in part a culprit. But hEDS and HSD are not considered autoimmune diseases, because the underlying mechanism does not match our current definition of autoimmune disease mechanisms. Will this change in the future? Perhaps.

A few definitions

· Immune system disorders: caused by abnormally low activity or over activity of the immune system. (WebMD)

· Autoimmune disease: a condition that triggers the body to attack itself. Most common autoimmune diseases include rheumatoid arthritis, lupus, inflammatory bowel disease, MS, type 1 diabetes, Guillain-Barre syndrome, psoriasis, and celiac disease.

· Immune system disease: a condition that lowers the body’s ability to defend itself. Examples include acquired immune deficiency from birth, a temporary deficiency due to medications (like chemotherapy), or a viral infection like AIDS or HIV. In these conditions, the body’s immune system cannot fight off simple infections. (Johns Hopkins)

· Autoimmunity: “present in all individuals; however, autoimmune disease occurs only in those individuals in whom the breakdown of one or more of the basic mechanisms regulating immune tolerance results in self-reactivity that can cause tissue damage.” (accessmedicine).

This term is the most confusing and problematic. In the book Disjointed (2020) autoimmunity is listed alongside Mast Cell Activation Disorder (MCAS) implying that autoimmunity is an actual condition. According to Wikipedia autoimmunity is merely the systems a body has in place to regulate immunity.

I’m steering clear of the term autoimmunity for now, as it seems like one of the words up for debate in usage. And until the medical community understands how autoimmunity is triggered into the pathological realm of autoimmune disease, the above labels and their definitions will most likely not remain static. In addition, as autoimmunity is a complex process of nonlinear embedded feedback loops, it will undoubtedly take years to unravel the interactions between cells and how signals are mismatched and/or scrambled.

*In this essay I delved into the connectedness of hEDS/HSD, mast cells, and the immune system. Researchers continue to explore the complex interactions of the three. Please read current journal articles and talk to experts as the essay above is my understanding of the topic.

Note: Please remember that research related to these connective tissue disorders is ever-changing; new findings are released often. What you read in these essays may be outdated by the time you read them. Moreover, I am not a doctor. I’m writing about my personal experience and health journey. The facts of the research and its purpose is objective; the opinion of the facts is mine alone. I am not offering medical advice. Always consult your doctor. That said, next up I’ll talk about my journey to find a safe self-care routine. Till next time.

Fiction writer, essayist, and poet. Author of the historical fiction book Babchi: A Love Story.