Jordanna Joaquina, MS, CGC  

Interests: Prenatal Genetics, Pediatric Genetics
Los Angeles, CA
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Ehler-Danlos Syndrome...A Common Connective Tissue Disorder

May 18, 2009 - 22 comments

Symptoms of Ehlers-Danlos


Types of Ehlers-Danlos


Ehlers-Danlos Syndrome


connective tissue disorder

About 1 in 5,000 people worldwide are affected with Ehlers-Danlos syndrome (EDS).

EDS is a group of genetic conditions that weaken connective tissues. Connective tissues are comprised of proteins that support bones, skin, blood vessels and other organs, like the heart.

As such, EDS usually affects the skin, joints and blood vessel walls. Symptoms can range from mild to severe depending on the type of EDS. Typical symptoms may include:

-loose (hyperextensible) joints
-fragile and small blood vessels
-easy bruising
-abnormal scar formation and wound healing
-soft, velvety skin that stretches very easily and is fragile

There are several types of EDS, which are characterized by their clinical features and genetic causes. For more information on the genetics of Ehlers-Danlos syndrome visit: http://AccessDNA.com/condition/Ehlers-Danlos_Syndrome/130

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Avatar universal
by Please_Help950, May 18, 2009
Hello, I am 18 yrs old, and I have had this problem for about 5 yrs now or more and  I'm really worried what is wrong with me due to the fact that my symptoms seem to be getting worse with each and every day. If I may ask you, I have heard of Ehler-Danlos Syndrome just today and I was wondering if these problems could be symptoms of that. I have posted this before on MedHelp on various Communities since I joined in February, but my problems are extremely worse now than they were then.  

I was diagnosed with a Chiari Malformation that was about 13mm in 2007 which they discovered in an MRI. I have had surgery done on June 13, 2007 in order to cure it. It only cured my severe headaches when I laughed, but it didn't cure my strange vision problems and daze feeling that I have 24/7. I also have Fibromyalgia which I believe might be misdiagnosed, near-sightedness, astigmatism and  Lazy eye.  

My vision problem first started off when my vision slowly became blurry with blind spots. Now I see strange colors in my vision 24/7 with my eyes opened or closed. These colors have been getting worse since when I first posted these symptoms on MedHelp until now I see really bright flashes of light that engulfs my entire left eye at times. It first began as a tiny spark and now like I said, it’s like someone is taking a big flashlight and shining it right in my left eye and continuously turning it on and off. Sometimes it is a white or yellow light but other times it appears green and gradually “slides” across my entire left eye. I have severe pain behind my eyes 24/7 too now that feels like someone is stabbing me right behind both of them. I also have discharge or something coming out of my eyes that keeps coating my glasses and I have to clean them multiple times during the entire day.
I also have a very strange feeling in my head 24/7 like I not even here. I really don't know how to explain it, it's like I'm not here or as if I'm dreaming. My short-term memory is horrible!!!!  I also keep getting my speech messed up when I talk.  

Other newer symptoms that I am now experiencing that I didn’t have in February. It is now a “chore” for me to even walk from point A to point B. My legs don’t even seem to want to carry me. I have severe pain in my ankles, knees, shins, and sometimes my calves 24/7. I feel as if I’m walking like how someone would after they have been horseback riding for a good while nonstop (I have gone horseback riding before  for a hour nonstop so I know how I felt once I got off of the horse). My legs don’t even seem to want to move right, almost like I’m limping without the limp if that makes any since. My bones have been locking up and cracking really loud and I’m completely losing the arch in both of my feet. I also have been stumbling and almost fell down multiple times now as well as twice on the stairs. :(

I am very flexible in my arms, thumbs, and legs in where I can bend them in ways that other people can't. Such as the ability to turn my arms and legs around in a complete circle. Would Ehlers-Danlos be mistaking easily for Fibromyaligia and/or cause really bad pain in your ankles or legs?

Thank You for reading this! :) If you know what might be causing this, please don't hesitate to respond. Thank You sooo much, I greatly appreciate your time and consideration!!!! :)

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by selmaS, May 18, 2009
Thank you for adding more info on Ehlers-Danlos Snydrome- I am trying to locate other members with this dx.I never knew why I was so slow to heal or why as my DH would say...I was like a rotten peach...always bruised but didn't know how I got them.

It is especially helpful to know for surgery purposes that other means of closing are necessary for this fragil skin.

I also read that vitamin C is a good suppliment to aid in helping those with EDS....can u explain how it works...how much we should take and what kind of dr is best for treating those of us with this.

I too have chiari malformation, tethered cord and cranial instability...DDD, and cervical stinosis.


Avatar universal
by ChickenFarmer, May 19, 2009
Does EDS tend to go along with any other conditions?  I was diagnosed with EDS many years ago, and now I'm being tested for lots of autoimmune conditions due to being tired and achy all the time.  I have ankylosing spondylitis and psoriatic arthritis in the family as well.

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by AireScottie, May 20, 2009
I second ChickenFarmer's question.  I know other autoimmune diseases are only supposed to be common in people with autoimmune connective tissue disorders (as opposed to genetic), but I have EDS and Sjogren's.  I think someone needs to research the link between genetic connective tissue disorders and EDS.

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by AireScottie, May 20, 2009
My mistake.  Genetic connective tissue disorders and autoimmune disease.

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by Jordanna Joaquina, MS, CGCBlank, May 20, 2009
Dear Please_Help950,
It sounds like you are going through a very scary time. We recommend that yon consult with your doctor about your symptoms. You may also benefit from seeing a neurologist. For a genetic evaluation, you can find a medical geneticist at the American College of Medical Genetics website. Best of luck!


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by Jordanna Joaquina, MS, CGCBlank, May 20, 2009
Sear selmaS,


Vitamin C may is used to possible reduce easy bruising, but it is not believed to have an effect on skin hyperextensibility, scarring or  joint hypermobility. Generally, a dose of two grams per day is recommended for adults with classic EDS and reduced amounts are recommended for affected children. However, there is no limitation. We recommend that you speak with your doctor regarding appropriate vitamin C dosing.

You can find information on how to talk to your doctor and the most appropriate doctors to manage care at the Ehlers-Danlos National Foundation website:


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by Jordanna Joaquina, MS, CGCBlank, May 20, 2009
Dear ChickenFarmer and AireScottie,

You both bring up an interesting question. I am unaware of any identified association between these autoimmune conditions and EDS at this time. However, as you both know, some people with classic EDS may experience chronic joint and limb pain as well as osteoarthritis. In addition, autoimmune conditions can also run in families and in some cases, multiple autoimmune conditions are seen in the same family or in the same person.

For more information on the genetics of autoimmune disease, you can visit: http://AccessDNA.com/condition/Autoimmune_Conditions/50

Avatar universal
by Please_Help950, May 20, 2009
To: Jordanna Joaquina, MS, CGC

Thank You sooo much for your response, I greatly appreciate it!!! :)  I'm currently seeing a Neurologist though, and he told me that he honestly doesn't know what is causing my symptoms. I'll inform him that my symptoms are getting much worse though and see what he says. Thank You sooo much again, I greatly appreciate it!!! :)

Have a Wonderful Evening! :)


Avatar universal
by cricket65, Jun 24, 2009
Go here and post about your symptoms: http://thyroidhost.proboards.com/index.cgi? Many of us have stretchy limbs. Some have been diagnosed with connective tissue problems.

I have EDS III, Hashimoto's, and am undergoing testing for adrenals, etc. All three of my daughters have EDS III and one of them is also diagnosed with Hashimoto's thyroiditis. We are seeing a geneticist on top of a bunch of other doctors, and I believe they need to look into this further. They need people like us to come forward.

I saw two neurologists before I was finally diagnosed with Hashimoto's! I hope you find out what is going on soon.


Avatar universal
by pggal, Jan 31, 2010
Often , If one has one autoimmune disorder the tendancy is to have several.

Avatar universal
by with_faith, Mar 25, 2010
I think I have EDS because I have all the symptoms described in the pages I searched. I am terribly worried how this condition can alter my future health life. In some links I read that people with EDS can end up in a wheelchair, or have major implications during pregnancy. I am currently 25, and I have been living with this since the day I can remember. Is there anyone here who has and is dealing with this and what they are doing to prevent major precautions. It is really hard to find a good doctor in Chicago. Also, to Please_help, I am so sorry for what is going on, my best advice is to find a way to increase the blood circulation in your legs. I try to walk/run and more massages. But I have to find out other effective ways. I don't have major implications, but I am trying to avoid that. I will be praying for you. And all the help anyone offers, I am very grateful.

This has severely incorrect information:
Ehlers Danlos Syndrome is a RARE connective tissue disease. 1:15,000 - 1:100.000.
The disease is not common.
However, Hypermobility Syndrome, often confused as EDS, may raise the prevalence if the two separate diseases are considered the same mistakenly by their similarity.
Also, there are much more symptoms.
This is a vague, and understated generalization of Ehlers Danlos Syndrome.

Avatar universal
by bendygirl, Jun 09, 2010
Hi. Im 34 with one child and during my pregnancy I suffered with SPD (SYMPHYSIS PUBIS DYSFUNCTION) basically meant my lower back couldnt handle the weight, It wasn't long after the birth I was diagnosed with Hypermobility Syndrome by a consultant ..however whilst visiting another consultant recently he told me I had Ehlers Danlos Syndrome..when I question this he said ...its the same as Hypermobility symdrome???

Ok now I am confused !! I thought EDS was the same as Hypermobility syndrome??? Can anyone explain? Whilst I find a replacement consultant LOL!

My problem now is Im having serious painful/aching neck which I have had since my child was born 2 years ago (must have approx 14 pillows in my house I have tried so many!!) ... & also bizarrely odd painful/aching eyes (Cant explain really my eyes feel just odd and occasionally painful) have had them checked 5x at opticians ..to constantly be told they are fine!? ...anyone have any clues if this is or could b related to HMS or EDS???


Avatar universal
by naneki, Aug 01, 2010
I am stunned by what i have read on this site. My niece who is now 22 had nearly identical symptoms to Please_help950.
Her problems were caused by blockage of her cerebrospinal fluid and still has not been resolved even after several surgeries. I found this site because I am awake tonight with stabbing pain in my left eye.

Avatar universal
by lissaM, Sep 25, 2010
I have been going through several test and with nueroligist, internalist and rhuematoligist started 4 years ago with extreme fatigue, muscle twitches, cramps, bone pain, and then joint pain. After a shot of cortezone I noticed my joints seemed to be trying to pop out of joint everytime I went to pick anything up or walk. A simple task of picking a pencil up off the desk, my fingers would try to pop out of joint.  Yesterday went to pick up a box and my shoulder started to pop out of joint, today it is extremely sore and when I move it it hurst down my arm and makes my elbow hurt really  and it runs up my neck and it hurts to move my neck too. I used to have trouble with shoulders dislocating when I would play baseball. And also had to go to Dr because they thought I had scoliosis, but Dr said there was a slight curvature in my neck and if I had any problems I would have to come back. Anyway I had blood work done  twice it came back with a positve ANA 160 titer and nucleolar pattern. I do have fibromyalgia, but now they think I have something more. Nuero said I have DTR billateral symmetry of 2/5 and peripheral nueropathy in right leg and only old people have that. (oh thanks)  I'm 46, nerve and muscle conduction test show overactive don't know what that means. I am not good at asking questions. She sent me back to rhuemy he said that the ANA is nothing to worry about a lot of people have that, but if you have any other strange symptoms occur feel free to call for another appointment. Something else is going on but how do I get them to do the right test? And also I have fibroid tumors in my uterus and one of my daughters has cyst in her breast and another daughter which has never had kids has endomitriosis. They was thinking I had MS but still haven't done MRI

Avatar universal
by cooperpadjoe, Dec 07, 2011
Is the link between EDDS and autoimmune disease's a defective chromosome 6? My first cousin suffered with vascular edds. I have ankylosing spondylitis and my sister has hashimoto's thyroiditis. I also had a sister who passed away in 1979 at the age of 7, of unclear causes but she was very ill for a number of years and doctors didn't seem to know what what was wrong. She was also treated for diabetes. All of these diseases are associated with a defective chromosome 6. I dont know much about genes so i would like to know do you have to have a defective chromosome 6 from both parents to experience medical issues or is it true that a paternal/maternal gene can duplicate itself and cause problems? Also we have all been female so does the question of xx/xy chromosome come into play?

Avatar universal
by busymom3CA, Mar 03, 2012
Please get tested for Lyme disease.  Regular labs like Quest get 80% false negatives so get tested at A lab that specializes in tick born illnesses such as Clogen Laboratories or Igenex.   Many believe that the best lab in the United States to test for Tick Borne Illness is IgeneX in Palo Alto California.  Lyme likes to cause brain fog, migratory joint pain and to imitate many autoimmune diseases.

Avatar universal
by LupieBabe, Jul 13, 2012
Wow!!!! My son has all of these symptoms, I will be talking to our family Dr. The only odd thing is that I also have "soft" joints ( this is what one doctor in Oklahoma called it for my son, my daughter and I), I have Lupus, Sjorgens, Osteoarthritis, Asthma, Seizures, and I have also had several bouts with cancer. Is all of this related? If so how?

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by helprebecca, Sep 12, 2016
My sister has been researching EDS because her 2 year old son has been diagnosed with Chiari Malformation 1 and she is looking into surgery options/great doctors to see what the best solution or treatment option is.  She has heard that sometimes the surgery doesn't work because there is a connective tissue disorder that wasn't caught.  Surgery might not be the best for Chiari when there is a connective tissue disorder.  She has found a dr named Claire Francamo that she said I should share.  I know nothing about this dr b/c my sister has been doing all of the research, but I have Lyme disease and now I wonder if I also have EDS.  How do you get tested?

Avatar universal
by Springdahlia, Oct 07, 2016
@helprebecca yes you should get tested. Ehlers is hereditary. Also, a lot of ehlers patients are positive for Lyme disease. I've heard of that doctor btw. Nothing but good things. I've noticed as well as others in my ehlers support group that it's also common to have a pitatuary cyst with chiari among other things. You can have your sisters doctor (Genetisist or whoever diagnosed her) send you the blood work form. And it will be done under her insurance I believe. That's how it worked with my mom. Also if you are having any brain involvement or systems such as vertigo or seizures, there's a new mutation they discovered (which I have) it's the flna gene (also known as ehlers danlos periventericular hetertopia form). One more word of advice I've had at least 15 brain and neck MRIs all together and all, but 1 missed the chiari and the pitatuary cyst. All the previous MRI images have them on there, but the person reading them missed both of them each time (even at Mayo Clinic). I spotted the chiari and asked my old neurologist what it was he said he did not know. So, go with your gut and do your research. You know your body best. I would recommend joining Facebook support groups for ehlers and chiari. They can help guide you!  Good luck and I'm sorry to hear about your sister and yourself. I will pray for the both of you. You both are lucky you have it figured out!  Most don't. I'm in the process of finding a neurosurgeon that will work with my insurance. Now that's a problem. Ha.

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by DuaneL, Feb 11, 2020
Hello. Firstly, it grieves me to hear of all the terrible symptoms all of you describe and how long and to how many doctors many have had to go in order to get near the bottom of your maladies! To that end, my 13 year old daughter has been struggling [email protected] four years with severe constipation, dizziness, headaches, joint pain and nausea. She played soccer (goalie) at a high level and went through a growth spurt @ age 9 coinciding w/ early onset menstration, and developed Osgood Schlatter w/ Petela Femoral (outward rotation of the knee caps in both knees). PT over a year got her back in the game until she suffered a severe concussion in friendly play in Scotland. C1and C2 misalignment, always cold(winter coat worn in August) vertigo, vomiting, vestibular issues, numbness in arms/hands. Recovery took over 14 months and some symptoms seem destined to be managed for life with chiropractic upper cervical care. She stopped growing almost immediately after the concussion event. Recently, she has struggled with increased numbness in arms/hands/legs and started experiencing burning sensations in feet. She was diagnosed with snapping hip syndrome as well as suffered a tear of the TFCC(triangular cartilage) in her right hand which is recommended for surgery. All in all her constipation, nausea, joint pain and sensitivity to cold have increased and spread to additional areas of her body. She is sensitive to gluten/dairy(we think) because they increase her nausea/vomiting but food allergy tests are negative for Celiac and Lactose. Orthopedic doctors have exhausted PT regimens on hips w/ no improvement in pain and functionality. She is NOT double jointed but has much popping and anterior/posterior movement in hips/shoulders. Her high tolerance for pain has masked many symptoms but the joint pain, numbness and inability to get her muscles to work when walking/running/throwing, combined with dizziness and nausea and weight gain are making her miserable. She is following a Lectin-free modified Paleo diet but still having digestive issues and not healing from her hip/wrist ligament issues. Any ideas about Pituitary issues or autoimmune similarities would be appreciated. We are exhausted w/Ortho. All they want to do is dig around in her joints!

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