This is our monthly round-up of information about Ehlers-Danlos Syndrome (EDS). If there is not enough material to create a newsletter, the posts may end up occurring quarterly. For more information about me and this newsletter, please look here for Sources of Medical Info and Support Groups.
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Blog: Hypermobility and Dancing c0ntortion
EDNF – a US based organization devoted to raising awareness about EDS has two monthly ‘newslstters” – a short version for basic members called the Hinge (the latest can be found here; archives are not available but here is the one from March. Please note that I am only providing these links to show the benefits of an EDNF membership.)
EDNF also publishes a longer newsletter called Loose Connections. You need to be a member to gain access to current versions of Loose Connections. This newsletter has many more indepth medical articles. You can acess back articles for free on the EDNF website here
EDNF’s other literature can be found for free here
People with EDS Type 4 (Vascular) have increased risk of heart problems. What is not as well known is that people with EDS Type 3 (Hypermobility) or in some circles knowns as Benign Hypermobility Syndrome (BJHS) also have an increased risk of heart issues. This is why in the US the NIH (National Institutes of Health) is recommending a baseline echocardiogram plus one every 2-5 yrs more to look for heart issues.
We’ve been discussing this topic here, but I wanted to pull together some of the info into one post.
1. “Cardiac problems are associated with both classical- and hypermobile-type EDS. Individuals with mitral valve prolapse and/or regurgitation require antibiotic prophylaxis to prevent bacterial endocarditis before dental or surgical procedures.[10] An unusually high prevalence of aortic dilation (28%) in individuals affected with both these types of EDS has been reported.[19] An increased risk of aortic dissection is associated with this significant dilatation.[25] Baseline echocardiograms should be initiated at age 5 to measure aortic diameter,[10,35] and follow-up should occur every 3 to 5 years depending on severity.[25]
membership is free
full article here: http://www.medscape.com/viewarticle/520046
or try here
More articles here and here (this last one deals specifically with hypermobility (Benign Hypermobility Syndrome (BJHS) patients.
2. Nazli McDonnell’s abstract: Heart Issues In EDS is here
Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes
Keywords: Ehlers-Danlos syndromes • aorta • echocardiography • impaired left ventricular relaxation
Structural cardiovascular alterations in the classical and hypermobile forms of Ehlers-Danlos syndrome(EDS) warrant investigation. We have examined a cohort of 38 patients with hypermobile and classical EDSs using two-dimensional echocardiography. The cohort includes 7 males and 31 females, with an age range from 12-60 years.
*Altered echocardiographic parameters were seen in the initial cross-sectional data analysis in 24/38 patients. (abstract)
*Five of the 38 participants had mildly dilated aortic root (AR) or sinuses of Valsalva (SV), and an additional 7 patients had an abnormal pouching of the SV, although the absolute dimensions did not exceed the normal range.
*Ten patients had mild mitral, tricuspid, or aortic regurgitation, and only one patient had mitral valve prolapse (MVP).
*Three patients had low normal systolic function; three had evidence of mildly elevated pulmonary pressures, and two patients had mild concentric left ventricular hypertrophy (LVH).
*Five patients had evidence of impaired left ventricular relaxation (LVR) based on mitral valve E to A velocity ratio.
*Interestingly, 26/38 subjects demonstrated a prominent right coronary artery (RCA) easily visualized by trans-thoracic echocardiography, and 10/38 had an elongated cardiac silhouette on the 4-chamber apical views. The 
pouching
shape of the SV was more common in hypermobile type than in the classical type of EDS.
The study is ongoing and will accrue longitudinal data on 100 subjects with classical and hypermobile EDSs at 2-year intervals. Published 2005 Wiley-Liss, Inc
3. Notes taken by an EDS patient at a recent speech given by Dr. Nazli McDonnell’s
Excerpts from the Dr. Nazli McDonnell meeting:
“In the meantime, I can say that the info distributed by Dr. Nazli McDonnell is full of hope. She has clearly identified so much ‘crossover’ from type to type. I also don’t know that I’ve ever heard the word crossover & words similar to it, as much as I did this week. & Dr. Marcia Willin’s 2 seminars were absolutely awesome!
Some things that I made notes of:
DR. NAZLI McDONNELL
*We truly have to be our own advocates.
*Keep track of your symptoms, treatments, & outcomes.
*Take notes before you see your doctors (and their nurses) and take notes during & then review them afterwards.
*Make sure you understand everything. If not, ask & ask again until you do. If not satisfied, KEEP LOOKING.
*We are not crazy,. This is NOT all in our heads.
*The study of Connective Tissue Disorders is truly coming into it’s own. We are making great strides. NIH is doing an awesome job with Dr. Nazli McDonnell at the helm.
*There is hope.
Some interesting points that we don’t always hear, in Dr. McDonnell’s discussion:
* There are new variants of EDS being discovered.
* There may be an increase in cardiac disease in EDS patients, even seen in 12-20 y.o.’s
* They are seeing low HDL’s, high LDL’s and ? high TSH (cholesteral and thyroid issues)
* Incidence of EDS in the general population is @ 1:5,000
* Incidence of Chiari Malformation in the general population is 1:10,000
* Incidence of Chiari Malformation in C.T.D. patients is 1:5,000
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This is the first of my weekly posts about Ehlers-Danlos Syndrome (EDS). If there is not enough material to create a newsletter, the posts may end up occurring bi-monthly. For more information about me and this newsletter, please look here for Sources of Medical Info and Support Groups.
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I only link to publicly accessible entries and websites. If you would like your post removed from this newsletter please drop a comment below. Please remember when you’re visiting people’s personal blogs or diaries that these often contain information of a personal and sensitive nature and to respect their privacy and concerns. We only quote excerpts from medical articles that require subscriptions or paid memberships to access.
2. What Does EDS Do To The Body?
When you have EDS it can impact a large portion of the body:
- Your ligaments – and thereby your joints. Without stable ligaments, joints slip and slide in and out of places resulting in micro-trauma, subluxations (it pops back in by itself) or dislocations (you need help resetting). This can include your ankles, your knees, your hips, your wrists, you shoulders, your back, your neck and even your jaw
- Your eyes – retinal detachment and myopia
- Your jaw/teeth – TMJ and loss of teeth (after all, your teeth are rooted in place via ligaments). Periodontal disease is common
- Your heart and your arteries – death by aneurysm is common in one EDS variation where the average life expectancy is 50. In other forms of EDS, low blood pressure and fainting occurs because your blood vessels ‘stretch’
- Your stomach (some patients cannot tolerate aspirin or ibuprofen – the stomach wall lining is too fragile). Bowel ruptures can occur. Constipation and other motility (movement) disorders. Gastroparesis (paralysis of stomach = inability to process food)
- Your uterus (again possible ruptures) , pregnancy complications and urinary incontinence
- Often your ribs flex and dislocate or the lining next to your lungs is inflamed
- Your back
- Your skin – poor wound healing and scarring. Heavy stretch marks (something I had even as pre-teen with no history of weight lost/gains).
- your throat – inability to swallow and acid reflux
(I am sure there are more, but let’s keep moving)
Now luckily, not all of these symptoms happen to every patient – in fact there are 6 types of EDS. There is only one genetic test for one the 6 types (the most severe form called Vascular EDS or Type 4). The other types are matched by doctors as best they can via observation and detailed medical history.
3. What Have I Got?
In my case, when I was diagnosed a few years ago, I was told I had ‘benign hypermobility syndrome”. They called it benign because it was not life threatening. I had suffered for 7 years from dislocations and unexplained joint pain- first in one knee, then the other. It then spread to my hip, my ankles, my shoulder and then my wrists. After being in physical therapy constantly for 7 years, I was finally referred to a rheumatologist, diagnosed and then told there was nothing they could for me. (“You could have the thighs of Arnold Schwarzenegger and it still would not fix your knee problem” Okaaay?, I thought. Then I realized: eeeeew!)
At the Mayo Clinic, I was able to get a more definite diagnosis – because of some skin involvement, I was told I had “EDS Type 3 (hypermobility).” I was once again told that this was not life threatening, but I needed to have an echocardiogram every 5 years (for the possibility of aortic rupture) and I might experience severe osteoarthritis later. In the meantime, practice good ergonomics, do my physical therapy and take anti-inflammatories. I should expect to have a normal life span.
4. Ooops, They Didn’t Tell Me
What I didn’t expect was that I would start to experience some of those other symptoms (beyond the joint pain.)
In the past three years I have experienced:
-Joint pain and dislocations in every large and small joints in my body (except for my right wrist. Go right wrist. Go. Or rather don’t go. Just…stay in place).
- Loss of muscle tone as a result of not being able to walk or exercise without pain
-Gastritis from use of anti-inflammatories.
-Gastropareis (inability to process foods) – first as a result of taking one or two pain pills, now on regular basis
-inability to take any pain meds regularly due to said gastropareis/gastritis
-jaw/teeth problems
5. On The Daily Level
What this means on a practical basis is the following:
-If I sit too long (more than 20) min, my knees begin to slide out of position and start to hurt
-If I sit with straight legs (say in recliner), my lower back is strained
-If I stand or walk for more than 20 min, my muscles strain so hard to keep the joints in place that they become fatigued. Then I experience hip, knee, and ankle pain.
-My typing skills are poor because of wrist and finger problems
-I cannot sleep the night through – because when I roll onto my shoulders they shift out of place (and I wake in pain)
-I have switched to a softer diet to reduce the strain on my jaw. I often eat strained, liquid or soft food to help with digestion
-I have no consistent and effective means of pain control
-Driving is tough because my knees and shoulder and wrists hurt. Sitting as passenger in the car is also painful.
-I often get cranky and tired and confused from the pain – I misspeak and forget things as my body struggles to process the pain signals and the lack of sleep
6. But…But…But … I Saw You Doing X Just This Morning!
Well it boggles me too. I still look normal, I often feel OK and I can move and walk and lift with seemingly little problem. But as the days wear on, the pain increases because my joints and bones are shifting and slipping in ways too small to notice. Sometimes I wake up the next day in excruciating pain with no real link to what I’ve done the day before. This makes it very hard to avoid doing what might cause pain.
7. On Rubber Bands And Grandparents
One EDS patient explained it to me this way: ‘our bodies are like elastic waistbands or rubber bands. After being stretched over and over again they lose their strength and give way.’
If you look at the list above, you may also recognize symptoms that your grandparents or older relatives are experiencing as they enter their 70s and 80s (urinary incontinence, constipation, retinal detachment – those granny ads on TV make sense now). . ‘Sometimes having EDS is like being an 80 year old in a 43 year old woman’s body.’
I am considered one of the lucky ones – having the mild or ‘benign’ form. Something for which I am grateful every day. Really.
What I’ve just written is not the definitive or even medically accurate overview of EDS. I’ve oversimplified many medical issues to help clarify my points. More can be found here.
(c) 2006-2007
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