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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12 thoughts on “EDS, POTS and MCAS Linked by One Gene Mutation”

  1. A J Dunnell says:

    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.

  2. john says:

    Please consider contacting the UK EDS Support group:


  3. Jeri Attwood says:

    I, too, need to be completely covered MOST days if out in direct sun, though even indirect can sometimes bother me. I wear hip and wrist braces as these are my most vulnerable parts, and since I do alot of stuff in the yard, when I can, I am very conscious of HOW I do it so as not to dislocate shoulders, roll ankles or piss off knees. My Sun issue not consistent in severity, though! I get sick, swell up, get REALLY stupid (brain fog) and have to sleep for a day or two. I am newly diagnosed with EDS, so am learning all kinds of ways to chill and not push. I was told I was a hypochondriac, and 2 doctors, in jest, told me I was weird. “shrug” We do what we do until we are given more tools, then we learn more and find more tools. I am grateful to have been diagnosed after 50 years of living with hip dislocations, shoulders dislocating, ribs moving around, gut issues and so on. And never anything wrong. Thank you for this article.

  4. Debbie says:

    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.

  5. JB says:

    I also have the sunlight allergic reaction, and another of my friends who also has MCAS, EDS and POTS has the sunlight reaction as well. You definitely aren’t alone there! 🙁

  6. Sonya Zapone says:

    I have all 3 and was diagnosed at age 37 afer suffering years. I wrote a book of my story. It’s on Amazon. Learn all you can!

  7. Theresa Mills says:

    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

  8. Sacha says:

    I too have allergic reaction to the sun! Everyone ridicules me including my husband. Finally, someone who confirmed I’m not hallucinating… Thank you.

  9. Hello –
    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.
    Kind regards,
    Amira a. Saleh, MS
    #longcovidawareness #longcovid #longcovidhelpline #scientificresearch #recovery

  10. Logan says:

    I also have a sunlight allergy and am currently in the process of being diagnosed with HEDS but after figuring out the POTS first but mostly because I was just. Fainting very often. So they did vitamin panel I was completely depleted in almost everything due to malabsorption, after that and years of chronic panic I finally researched enough to show up to dr’s office with proof and list of demands (symptoms) basically

  11. Andrea grubbs says:

    I’ve had many issues with doctors. By the time I can get them to act on my behalf, I’m already trying to treat myself. Particularly with pots, I have started hypnotherapy. Drastically curbing my ibs symptoms and bp/hr dips and rises. So my first set of bp monitoring numbers only ranged in 20pt increments. Still pots but getting it under control. With tachycardia, cold showers do the trick. My shoulders are the “double jointed “ area. I don’t have too many hiccups there but my daughter has an inverted stance with it in her knees. Scoliosis is a thing I’ve heard, and diagnosed many years ago. Still working on my diagnosis’s as food is starting to not be such a huge impact since retraining the brain. I will add that my symptoms started after my bout with Covid.

  12. Jessi says:

    i also have a sunlight allergy

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