What is Ehlers–Danlos syndrome (EDS)

edsWhat is EDS?

From Wiki:

“Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations that have been classified into several primary types. EDS is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen, such as mutations in the COL5A or COL3A genes. (This is the collagen of granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen is synthesized. Reticular fiber. Also found in artery walls, skin, intestines and the uterus.–COL3A1). The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. In some cases, the severity of the mutation can be life-threatening.”

Signs and Symptoms of EDS

  • hypermobile joints
  • skin hyperelasticity

Here are the symptoms depending on which type of EDS you have.

Musculoskeletal:

Photo Source: www.eatonhand.com
Photo Source: www.eatonhand.com

Hyper-flexible joints
Unstable joints
osteoarthritis
Chronic degenerative joint disease
Swan neck deformity of the fingers
Boutonniere deformity of the fingers
Tearing of tendons or muscles
Deformities of the spine, such as: scoliosis or kyphosis tethered spinal cord syndrome, occipitoatlantoaxial hypermobility
Muscle Pain
Joint Pain

Skin:

Fragile skin that tears easily
Easy bruising
Redundant skin folds
Molluscoid pseudotumors
Subcutaneous spheroids
Livedo reticularis

.
Cardiovascular:

Arterial rupture
Valvular heart disease (such as mitral valve prolapse)
Dilation and/or rupture of ascending aorta
Postural orthostatic tachycardia syndrome (POTS)
Raynaud’s Phenomenon

.
Other manifestations or complications:

Hiatial hernia
Anal prolapse
Collapsed lung
Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)
Insensitivity to local anesthetics.
Arnold–Chiari malformation
Platelet aggregation failure
Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficiency, uterine tearing,  or premature rupture of membranes.
Sleep Apnea

What is the treatment?

There is no cure for EDS, and treatment is supportive, but doctors continue to work on this and more specialty clinics are opening up for EDS.

Click on Chart to Enlarge

types of EDS
Photo Source: Wiki

 Learn More about EDS on These Websites

Ehlers-Danlos syndrome by Mayo Clinic

The Ehlers-Danlos National Foundation

EDS on Medline Plus

Children and EDS

Genetics of Ehlers-Danlos Syndrome Treatment & Management

NYU Langone Medical Center on EDS

Genetic Testing for EDS

Collagen Diagnostic Labs

Hypermobility Syndromes Association

Is it Ehlers-Danlos Syndrome?

Local anaesthetic failure in joint hypermobility syndrome

Ehlers—Danlos syndrome and multiple sclerosis: a possible association

EDS (Ehlers-Danlos Syndrome) – My Story

A New Disease Cluster: Mast Cell Activation Syndrome, Postural Orthostatic Tachycardia Syndrome, and Ehlers-Danlos Syndrome

It’s Not About “Flexibility”

EDS Online Support Groups

Central Illinois EDS Group (Facebook)

Ehlers-Danlos Syndrome (EDS) Support of Northern California (Facebook)

Maryland Metro MCADS, POTS, EDS (Facebook)

EDS Today (Facebook)

EDS- Zebras Need Zebras (Facebook)

Books on EDS

 Another Connective Tissue Disorder You May Want to Learn More about is Stickler Syndrome. 

EDS and Lyme Poll

It is hard to find any research linking Lyme disease to Ehlers–Danlos syndrome, yet in the support groups many seem to be diagnosed with both, so here is a poll to see how common this is in the Lyme community.

 

 If you would like to subscribe to the “whatislyme.com Monthly Lyme News” Newsletter enter your email below.





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3 thoughts on “What is Ehlers–Danlos syndrome (EDS)”

  1. Hi. My son was diagnosed with Mycoplasma by his pediatrician years ago and the doctor went nuts – she had no idea how he would have contracted this and I, at the time, didn’t realize what it was or the gravity of it. She gave us Rocephin and told us that it should take care of it. He also began to have joint issues and very hypermobile actions. Another pediatrician said, “Ehlers Danlos? What is that?” He seemed disenchanted with my internet visits. Two geneticists diagnosed my son with EDS -hypermobile type. My son seemed to get sicker and sicker and very sad. No longer could he play sports as his joints were fragile. He seemed to get better in time but was very sad and wanted so badly to please his dad (coach). Then, years later, we were exposed to toxic mold. His health plummeted. I read where Mycoplasma would come out of dormancy if a trauma occurred or another pathogen attacked the body. His EDS got worse and a divorce left my son miserable. School bullying and school issues were excessive and my son was always sick. I attributed everything to the toxic mold and spent everything I had on doctors who couldn’t help. This has gone on for the last 3 years and he had to graduate high school on a homebound program. I had totally forgotten about the Mycoplasma and issues with doctors who tell me that they can’t help yet falsify notes and so forth really worry me. A doctor who, at the time, was not afraid to see us ran labs and biomarkers for neuroinflammation. These were extremely abnormal. When I went back to a former doctor who had tested my son’s TGFBeta 1 level and charged me (I was only getting the charge list – not the results – early on I just listened as the doctor explained results …I asked to see my son’s level when he tested it to compare the level that was taken in Chapel Hill. The office mumbled and said that they had changed computer systems and couldn’t bring it up – sorry. That wasn’t good enough. I pressed for the results and showed the $111.00 charge out of the thousands that I had spent on that doctor alone. The doctor himself called and said that -“Hey, ya know what? I charged you for something I didn’t have the lab test for! I’m sorry about that, I’ll just reimburse you…The Chapel Hill doctor said that it could be mold toxins or Lyme toxins or both. The C4a was sky high at 17,000 on my test results. I asked this less than honest doctor who had already said that there are things that doctors could get in trouble for treating – like Dr. Jemsek did (but at the time I had no clue about Lyme) When my son was rushed to the emergency with neuro problems, the doctors at the hospital had no clue about biotoxin blood biomarkers that indicated neuroinflammation. They thought I was crazy and without my knowledge or consent they had filled him with psychotropics before I got there (my mom took him to the hospital). They recommended that he be involuntarily committed! My precious son who was gentle, sweet and very smart had suffered so much at the hands of doctors who refused to treat something that could get them in trouble. Some doctors really did not know about it – so they said in 2015 and 2016 and 2017 and 2018. When are they going to know? Now I am finding out that Lyme can appear with co-infections, namely Mycoplasma. I am also learning that Borrelia – the pathogen in Lyme – eats collagen! He may not even have Ehlers Danlos!

  2. Just wanted to drop a link to my favorite site and article about EDS hypermobility type (the most common) for anyone who wants to look into it further. It gives a great in depth look at how EDS affects the body, including the nervous system involvement. The only prominent feature it leaves out is dental decay and early tooth loss, which is due partially to our teeth not being “set” right into our jaws because of the collagen issues and partially because EDSers tend to be vitamin D deficient and often have low bone density.
    I also wanted to mention that while all forms of EDS have hypermobility of the joints, the skin hyper-elasticity is a more prominent feature of Classical Type (the second most common) than HT, so don’t let the lack of skin stretchiness deter you from finding a literate doc if you suspect hypermobility, and on the flip side of that, those with Classical type often do not have as much joint hypermobility.
    Remember, there is no such thing as “double jointed”. Researchers have made a lot of discoveries and progress over just the last decade and have found that folks who are double-jointed have some form of connective tissue disorder, and with that finding many experts feel that while the prevalence is officially considered to be 1 in 5,000 (with all EDS types combined) in truth the number is closer to 1 in 500, any may be even more common when you take into consideration how many people have been misdiagnosed as having some form of arthritis or fibromyalgia. Heck, I had a doc tell me a couple weeks back I don’t have EDS (after being DX’d by 5 other docs with it) but rather “Chronic Pain Syndrome”. Unfortunately, much like Lyme, doctors are not taught well about EDS and it is hard to find a knowledgeable one unless they have taken an interest and done the research themselves.
    Because of the way Lyme interacts with EDS for those of us unlucky enough to have both-or are suspected to have both- early and proper care is critical because deterioration of our entire bodies can happen very rapidly.

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