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The Surprising Link Between Ehlers-Danlos Syndromes & Mast Cell Activation Syndrome

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  3. The Surprising Link Between Ehlers-Danlos…
Ehlers-Danlos Syndromes

Imagine that you moved into a new house. Everything seems fine at first, but after a while you start noticing that there are a few odd things about this house. Some of the bricks are coming loose. And soon enough, cracks start forming on the walls. Then you find out the house is being held together with super glue – meaning your house is just barely being held together.

Now imagine this happening in your own body. Your connective tissue – the “glue” that helps hold everything in place – is poorly constructed and isn’t strong enough, meaning that your skin and joints can stretch and hyperextend beyond normal human limits. The thought of being super flexible might sound cool, until you realize that it’s not just the limbs that get all jumbled up, your nerves do, too.

This is a reality for people with Ehlers-Danlos Syndromes. And recent research indicates that these potentially life-threatening disorders are linked to mast cell activation syndrome – another condition I’ve written about regularly.

 

What are the Ehlers-Danlos Syndromes?

Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders caused by varying genetic defects primarily in the structure, production, and/or processing of collagen.

As the single most abundant protein in the human body, collagen is well known for being a major component of connective tissue and the extracellular matrix, a network of carbohydrates and proteins that support the structure of the cell.

Collagen gives tissues strength and structural integrity. Therefore, mutations in the collagen genes can cause disorders like EDS, which are characterized by either poor strength or deficiency of collagen.

 

The 13 Subtypes of Ehlers-Danlos Syndromes

The EDS are classified into 13 subtypes, each of which has a specific genetic basis and protein involvement, as well as a set of clinical criteria. This means that these subtypes can also vary in how the body is affected.

According to The Ehlers-Danlos Society, the 13 subtypes of are as follows:

  1. Classical EDS (cEDS)
  2. Classical-like EDS (clEDS)
  3. Cardiac-valvular EDS (cvEDS)
  4. Vascular EDS (vEDS)
  5. Hypermobile EDS
  6. Arthrochalasia EDS (aEDS)
  7. Dermatosparaxis EDS (dEDS)
  8. Kyphoscoliotic EDS (kEDS)
  9. Brittle Cornea Syndrome (BCS)
  10. Spondylodysplastic EDS (spEDS)
  11. Musculocontractural EDS (mcEDS)
  12. Myopathic EDS (mEDS)
  13. Periodontal EDS (pEDS)

If you suspect that you have an Ehlers-Danlos Syndrome, you should have your physical signs and symptoms matched up to the criteria for each subtype to get the best-fitting diagnosis. However, because many symptoms of EDS (see next section) overlap, I also highly encourage genetic testing to identify the responsible gene variant and to confirm the diagnosis.

 

6 Symptoms of Ehlers-Danlos Syndromes

Ehlers-Danlos Syndromes are complex and multisystem diseases with clinical symptoms that vary depending on the type of collagen altered. And although Ehlers-Danlos Syndromes mostly affect the joints and skin, the severity of the defects in the connective tissues range from mild discomfort to life-threatening.

The 6 most common symptoms of the Ehlers-Danlos Syndromes include the following:

  1. Joints: Hypermobility, or an unusually large range of movement in joints; loose joints prone to dislocation; chronic joint/limb pain; early onset of osteoarthritis.
  2. Skin: Highly stretchy, velvety skin that is extremely fragile and bruises easily; telangiectasia; abnormal scarring; slow wound healing with scars that form characteristic “cigarette paper” appearance; molluscoid pseudotumors; subcutaneous spheroids, or hard nodules under the skin.
  3. Bone: Osteoporosis, scoliosis (from birth).
  4. Gastrointestinal: Hiatal hernias, visceroptosis, rectoceles, rectal prolapse, changes to gut motility.
  5. Eyes: Unusually small corneas, scleral fragility.
  6. Heart: Rupture-prone arteries, mitral valve prolapse.

 

What Does Mast Cell Activation Syndrome Have to do With Ehlers-Danlos Syndromes?

Mast cells are key players in the immune system and are found in connective tissues throughout the body. They are generally associated with allergic response, but they are involved in the regulation of many other functions, including angiogenesis (formation of new blood vessels), defense against pathogens, and tissue homeostasis.

When activated, mast cells generate and release chemical mediators, such as:

  • Histamine
  • Proteases
  • Prostanoids
  • Leukotrienes
  • Heparin
  • Cytokines
  • Chemokines
  • Growth factors

The release of these molecules into surrounding tissue leads to swelling and inflammation, a necessary part of the healing process. Unfortunately, mast cells can become overactive and release excessive levels of these chemicals, resulting in a condition known as mast cell activation syndrome (MCAS). MCAS is a chronic, multi-system condition with a wide range of symptoms.

If you’d like to find out more about MCAS including the symptoms and recommended treatment methods, read my article, Mast Cell Activation Syndrome (MCAS): When Histamine Goes Haywire.

Researchers believe that there is a link between MCAS and EDS. Mast cells adhere to proteins called fibronectin and vitronectin in the extracellular matrix, and this interaction can lead to the production and release of various proinflammatory molecules called cytokines. Since EDS are caused by defects in collagen, they suggest that the abnormal internal signals caused by these mutations can lead to changes in mast cell behavior, leading to MCAS.

In one study, researchers have found that a subpopulation (approximately 66%) of patients with hEDS and Postural Tachycardia Syndrome (POTS, lightheadedness and rapid heartbeat upon standing) also had MCAS. Patients with hEDS and POTS also exhibited symptoms consistent with MCAS. Therefore, it is possible that there is also a link among these three conditions.

 

How Do You Treat Mast Cell Activation Syndrome and Ehlers-Danlos Syndromes?

Neither Mast Cell Activation Syndrom nor Ehlers-Danlos Syndromes are curable, but there are methods you can use to treat each disorder, most of which involve relieving the symptoms and preventing serious complications. For EDS, because symptoms vary among the subtypes, you will likely need to work with different medical specialists who are familiar with the conditions.

The treatment of MCAS should also be highly individualized. In addition to my article on MCAS mentioned above, you may find this article helpful: Mold is a Major Trigger of Mast Cell Activation Syndrome. Here I discuss various treatment methods as well as my personal experience with MCAS.

Of the treatments available for MCAS, countless research studies have supported the use of antihistamines to block histamine receptors H1 and H2. If you’re looking to try an effective antihistamine, I highly recommend Hist Assist. This is a powerful, all-natural formula containing a targeted blend of antioxidants, herbs, and enzymes to help you maintain optimal health and comfort even during allergy season.

Do you or a loved one suffer from Ehlers-Danlos Syndrome? Are you surprised by its connection to MCAS? Share your thoughts in the comments below!

 

References:

https://www.ncbi.nlm.nih.gov/books/NBK21582/

https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#genes

https://www.ehlers-danlos.com/eds-types/

https://www.ncbi.nlm.nih.gov/pubmed/28186368

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773269/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701915/

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31555

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2326919/

https://search.proquest.com/openview/a732b273a10a012b697bbcf27fc667f3/1?pq-origsite=gscholar&cbl=105664

https://www.ninds.nih.gov/Disorders/All-Disorders/Postural-Tachycardia-Syndrome-Information-Page

* These statements have not been evaluated by the Food and Drug Administration. The product mentioned in this article are not intended to diagnose, treat, cure, or prevent any disease.   The information in this article is not intended to replace any recommendations or relationship with your physician.  Please review references sited at end of article for scientific support of any claims made.

Categories: Adrenal Health, AllergiesBy Dr. Jill C. Carnahan, MD, ABIHM, IFMCPApril 16, 201919 Comments
Tags: bone healthEhlers-Danlos Syndromeseyesheartjoint healthjointsMast Cell Activation SyndromeMCASskin
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Author: Dr. Jill C. Carnahan, MD, ABIHM, IFMCP

https://www.jillcarnahan.com/

Dr. Jill is Your Functional Medicine Expert! She uses functional medicine to help you find answers to the cause of your illness and addresses the biochemical imbalances that may be making you feel ill. She'll help you search for underlying triggers contributing to your illness through cutting edge lab testing and tailor the intervention to your specific needs as an individual. She may use diet, supplements, lifestyle changes or medication to treat your illness but will seek the most gentle way to help your body restore balance along with the least invasive treatment possible. Dr. Jill is a functional medicine expert consultant and treats environmental and mold-related illness as well

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19 Comments

  1. Suzanne Brown says:
    April 18, 2019 at 8:23 am

    I have two granddaughters with EDS. What I found surprising was debilitating symptoms didn’t rise until high school. One has had donor ligament to replace hers due to multiple knee dislocations.

    Reply
  2. Sandi Soares says:
    April 18, 2019 at 9:59 pm

    My daughter has all three and we can’t get any of it under control We have Kaiser who has now sent us to Stanford. How an you help aid us Dr Jill?
    Any information and guidance would be beyond grateful. My email saddleupok@comcast.net

    Reply
  3. Marlene Hochstrasser says:
    April 19, 2019 at 12:18 am

    Just heard a friend in mid fifties in CCU with ripped arteries. She has been highly allergic since birth . For the last year her allergies have been out of control and has now been referred to Immuniology. As as independent allergy nurse I have been concerned she also might have MCAS. . Are medical service does not always do joined up writing we have the silo effect ! This article has really been informative. Think they need to test for EDS. There is a history of aortic aneurysms in male side of family . Do you think that can be related. .
    Thank you for for sharing your research.

    Reply
  4. Pingback: Le lien surprenant entre les syndromes d’Ehlers-Danlos et le syndrome d’activation des mastocytes – LymeCombat
  5. Linda Hope says:
    April 19, 2019 at 12:46 pm

    I have been dealing with this all my life (73 years), Hypermobile type as far as I know. I now have Gi issues with dysbiosis, vagal nerve involvement with palpitations and what seems to me to be MCAS. I fit the profile with allergies. Additionally I have a methylation genetic mutation from unprotected exposure to chemicals years ago. I have found functional docs some of whom know what EDS is but not what to do with me. Lots of joints are “wearing out” and I now use a scooter to get around. Since I’m addressing all these issues symptomatically I dont’ think there is more I can do. It is very frustrating at times.

    Reply
    • Ms Moore says:
      May 17, 2019 at 3:03 pm

      mamy doctors have not heard of this and just eant to precribe anxiety pills even though you have lip angidema and other horrible allergy symptoms with eating.

      Reply
  6. Kate says:
    April 19, 2019 at 2:39 pm

    Careful. Antihistamines are a two edged sword since they can also encourage degranulation due to perceived dirth of histamine. Therefore mast cells can degranulate more to make up for lack of histamine.

    Reply
  7. Caroline Norden says:
    April 19, 2019 at 7:27 pm

    Many EDS patients have found the cusack protocol to be life changing. There’s a great group on Facebook describing this protocol.

    Reply
  8. Carol says:
    April 19, 2019 at 8:21 pm

    There’s actually also a third issue often related — POTS (postural onset tachycardia syndrome). Some docs/researchers I know refer to MCAS, EDS, and POTS as the “triad”. I first developed serious POTS as a young woman who had hypermobile elbows and knees the first half of my life to date, then in mid-life I developed anaphylaxis problems (and dermatographism and other symptoms) and was diagnosed with MCAS based on high levels of histamine and other mast cell mediators. I had also by that time developed cystocele and rectocele as signs of collagen weakness (2 pelvic floor prolapse repairs) although I never was formally diagnosed with EDS (as I’ve aged my joints have quit being lax, which isn’t classic EDS but perhaps a variant). The interesting thing is that once I was diagnosed with MCAS and put on H1 and H2 blockers and avoided degranulators, the POTS (which had plagued me for years) almost went away and I only rarely have flares now. Clearly this is genetic as my mother and aunt had similar symptoms. Also my genetic analysis showed lots of polymorphisms and methylation errors. I have a PhD in a health care related field and have researched this triad extensively. Fortunately I have now largely gotten the MCAS under control with lots of supplements, lifestyle changes (lower stress, adequate sleep and exercise), detox, careful diet with good nutrition, avoiding things that cause mast cell degranulation, etc. Although it has been a long road and I still struggle, there is certainly hope that one can get better since I continue to be active, work full time, and have raised 3 children. I thought I’d share my story if any find it helpful! Thank you, Dr. Jill, for shining a light on this issue.

    Reply
  9. Tonya Brothwell says:
    April 25, 2019 at 3:58 am

    I was diagnosed as a small child back in 1979 at Primary Children’s Hospital in Salt Lake City, UT. At the time I was in foster care, the foster parents were accused of child abuse due to severe bruses. At that time I was given the diagnosis of Ehlers Danlos Syndrome Type III. At that time I believe they stated only 159 people known had this disorder, now not sure how true this was. Over the years things have been dismissed, new discoveries, a lot of confusion has set in on which type i actually have since so many of my symptoms go to do many different “types”. Turning 43 next week, I watch my children with this struggle daily, not remembering my pain levels being as high so young, now sometimes unbearable with no choice but to keep moving, if you stop….You may never get going again…supporting the phrase “A body in motion stays in motion”, until it refuses. Is it possible to have more than “one type”? Dr’s here are clueless, copays cost too much money, visits take too long.. I would love to know the actual answers, if you could help.

    Reply
  10. Louise Huntley says:
    April 27, 2019 at 5:28 am

    Any idea if you can get hist assist in the Uk or something similar

    Reply
    • Jill Carnahan, MD says:
      April 28, 2019 at 8:36 am

      UmbrelleuxDAO is manufactured in Europe and similar

      Reply
  11. Kelly Brennan says:
    May 1, 2019 at 6:23 am

    I am a huge fan and am very familiar with your perspective on MCAS. I am so happy to see you writing about its relationship to EDS! Just diagnosed less than a year ago and still discovering which treatments work best.

    Reply
  12. Pingback: 9 Proven Treatments for Mast Cell Activation Syndrome - Plus, a Surprising New Comer - Jill Carnahan, MD
  13. spanish dictionary says:
    May 14, 2019 at 10:02 pm

    Mast cells are key players in the immune system and are found in connective tissues throughout the body

    Reply
  14. run 3 says:
    August 21, 2019 at 3:21 am

    I will have to follow you, the information you bring is very real, reflecting correctly and objectively, it is very useful for society to grow together.

    Reply
  15. Haydee Yohe says:
    October 22, 2020 at 4:15 am

    It’s hard to say

    Reply
  16. MamaBear says:
    April 10, 2021 at 11:27 am

    My daughter has the triad and is now in middle school. We can handle the hEDS. It’s the MCAS that’s the hardest to manage. And now we have identified mold infection and have left our old, moldy home. AND it is so very true for us that when our MCAS is bad that it triggers worse symptoms of hEDS and POTS.

    I want to share a caution about various MCAS treatments and “all natural” supplements. 1) Be sure to know whether or not you are also intolerant to salicylates. If so, bioflavinoids, quercitin and most plants are often not tolerated. 2) Steroids degrade our collagen; thus, not a good treatment except for emergency/one-time use. Bottomline–there are a lot of contraindicated treatments, so do your homework.

    Separately, I find the app Food Intolerances with the strawberry logo to be very helpful when looking to add in or trial various foods.

    Reply
    • Jill Carnahan, MD says:
      April 10, 2021 at 1:14 pm

      Thank you for your comments, MamaBear!

      Reply

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