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:
- Classical EDS (cEDS)
- Classical-like EDS (clEDS)
- Cardiac-valvular EDS (cvEDS)
- Vascular EDS (vEDS)
- Hypermobile EDS
- Arthrochalasia EDS (aEDS)
- Dermatosparaxis EDS (dEDS)
- Kyphoscoliotic EDS (kEDS)
- Brittle Cornea Syndrome (BCS)
- Spondylodysplastic EDS (spEDS)
- Musculocontractural EDS (mcEDS)
- Myopathic EDS (mEDS)
- 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:
- Joints: Hypermobility, or an unusually large range of movement in joints; loose joints prone to dislocation; chronic joint/limb pain; early onset of osteoarthritis.
- 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.
- Bone: Osteoporosis, scoliosis (from birth).
- Gastrointestinal: Hiatal hernias, visceroptosis, rectoceles, rectal prolapse, changes to gut motility.
- Eyes: Unusually small corneas, scleral fragility.
- 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://www.ninds.nih.gov/Disorders/All-Disorders/Postural-Tachycardia-Syndrome-Information-Page
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.
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 [email protected]