EDS, POTS and MCAS Linked by One Gene Mutation
Author: Kate Horowitz
On a good day, my shoulders, knees, and hips will dislocate two to five times apiece. The slightest bump into a table or door will bloom new bruises on my arms and legs or tear a gash in the thin skin on my hands. My blood pressure will plummet each time I stand, making me feel woozy, nauseated, and weak. I’ll have trouble focusing and remembering words. I’ll run my errands from underneath an umbrella to prevent an allergic reaction to the Sun.
I have Ehlers-Danlos Syndrome (EDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS)—a trifecta of weird diseases. POTS, EDS, and MCAS are so obscure that many doctors have never even heard of them. But a study published today in Nature Genetics might help change that: Researchers have found a genetic mutation that links all three conditions.
There are at least six types of EDS, all caused by defective connective tissue. I’ve got the most common form, Hypermobility Type (EDS-HT), also known as EDS-III. EDS-HT is considered the most “benign” form—that is, it’s generally not fatal—but the chronic pain, injuries, and other symptoms it causes can easily take over a person’s life.
POTS is a form of dysautonomia, or dysfunction of the autonomic nervous system (ANS). The ANS manages all the things your body does without thinking, from breathing and pumping blood to digesting food. My POTS is pretty mild; at the moment, the hardest parts are the fatigue and the cognitive issues caused by decreased blood flow to my brain. Other people are not so lucky and may need feeding tubes or constant bed rest.
MCAS, also called Mast Cell Activation Disease, is the newest and potentially the trickiest of the three. Mast cells are generally heroes in the body, helping keep the immune system alert and responsive. But some people have paranoid mast cells that can perceive just about anything (foods, medications, temperatures, deep breathing) as a threat. And when they go off, there’s no telling what will happen; researchers have implicated mast cell activation issues in dozens of symptoms and conditions, from anaphylactic shock to irritable bowel syndrome as well as dysautonomia and connective tissue problems.
People who have EDS-HT often also have POTS or MCAS or both, yet the relationshipsbetween the three remain murky. Some scientists think EDS causes POTS. Others think MCAS causes POTS and EDS. But we don’t really know, because there’s been barely any research on any of them. It’s hard to study conditions that look different in every patient (I’ve never met anyone else with one of these conditions who has a sunlight allergy) and have few, if any, quantifiable symptoms. Another reason for the lack of scientific interest? All three conditions are far more common in women, a trait long associated with meager research funding and minimal medical concern.
Consequently, there are no FDA-approved tests for these diseases, and there are certainly no cures. People with EDS-HT wear joint braces to reduce dislocations and are taught to manage their pain. People with POTS are prescribed beta blockers, high-sodium diets, and compression gear to keep up their blood pressure. People with MCAS are given antihistamines.
EDS-HT is typically passed from parent to child, and scientists have found genetic markers for other types of EDS, so it’s not unreasonable to think that it could be caused by mutated DNA.
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6 thoughts on “EDS, POTS and MCAS Linked by One Gene Mutation”
Today is my 60th Birthday. It has taken 50 years to get a diagnosis of EDS. The various medics I have seen have misdiagnosed me throughout my life, to my cost. I went on to anti histamines myself. I have been ridiculed, humiliated and ignored for decades, and still can’t get to see a specialist. I live in Wales U.K. I have no faith in medics, I am invisible. No support, branded a “very anxious (silly) woman”. Thank you for your info on EDS.
Please consider contacting the UK EDS Support group:
You are not alone! I am 62, and have been trying to get a diagnosis for 40 years! It wasn’t until my son started fainting and having severe pain that settled into a more chronic pain, that I realized our problem might be genetic. I have been waiting 3 months for our genetic testing. I believe we have the trifecta diseases! I paid out of pocket for the DNA testing instead of trying to convince doctors! Expensive, but totally worth it if I get answers. I have had the same frustrating experiences that you have. I wish you well. I know how bAd it can be.
Hello My Name is Theresa , I have been sick as long as I can remember. Its constantly something.. My friends and family started talking behind my back about me being one who seeks for attention. I wish one would walk a day in my shoes. I have EDS POTS and MCAS. the later just being diagnosed. I am almost 60. Some of these medical issues were hidden from me. Which made me more anxious and ” paranoid” Which got charted as a separate problem… One problem always built on another… And to get medical help with that in your chart– you might as well forget it… Then comes to all our physical problems which most are so weird they get written off too… Frustration builds. I am with you all. Much Love
I too have allergic reaction to the sun! Everyone ridicules me including my husband. Finally, someone who confirmed I’m not hallucinating… Thank you.
Ms. Horowitz you explained these confounding conditions very well.
Definitely not alone — over 20 million folks in the USA alone and about 100 million worldwide suffering and newly disabled from a combination of EDS, MCAS, and/or POTS conditions as they often develop in post COVID-19 patients. I’m a research scientist and advocate for Long COVID survivors. Many with Long COVID develop or exacerbate preexisting EDS POTS and MCAS — if they have any genetic tendency towards these condition it becomes activated during the progression of the post viral condition. We’ve had success in managing symptoms using alternative functional medicine, working with integrative rheumatologists along with traditional medicine in other disciplines. We focus on optimizing gut health to support the gut brain immune axis and following an immune supportive diet, with nutritional supplements and lifestyle to reduce inflammation appears to help mitigate symptoms and improve wellbeing.
Please continue the conversation and share your experience with us — follow us. Long COVID Association is USA based, IRS 501(c)3 nonprofit scientific research, education, health equity and advocacy for the recovery of all Long COVID survivors and benefit the public.
Amira a. Saleh, MS
#longcovidawareness #longcovid #longcovidhelpline #scientificresearch #recovery