Ehlers-Danlos Syndrome Overview – SASO

This is from a fellow researcher and longtime Inspire.com-EDNF forum member, “SlapASmileOn”. Below is her whole page of links to everything you need to familiarize yourself with  EDS.  Many are from our advocate organization, the Ehlers-Danlos National Foundation,. and doctors who specialize in EDS.

EDS is a collection of genetic collagen defects. Each type of EDS is defined as a distinct problem in making or using one of the types of collagen.

First, the majority of EDS experts and many other doctors and health organizations say Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome, Hypermobility type are the same thing: http://www.ednf.org/images/stories/pdfs_medical/2009_11/2009_Tinkle_AJMG_Pa rtA.pdf

Diagnosis is done through examination. An EDS exam for diagnosis probably will include testing skin for what it feels like, how much it stretches; the Beighton Score http://hypermobility.org/hypermobility/do-i-have-hms/beighton-score/ and/or the newer Brighton Score http://hypermobility.org/hypermobility/do-i-have-hms/the-brighton-score/ for testing hypermobility, taking a look at your medical history to figure out what EDS symptoms you may have shown in the past and whether you inherited EDS.

Your family’s medical history as far back on both sides is also considered during the assessment. It might also include an echocardiogram if heart or vascular issues are suspected, or other tests depending on the symptoms and doctor.

There are genetic tests for some of the types that can confirm a diagnosis, but can’t be used to rule one out in most cases; if you don’t test positive genetically, that doesn’t mean you don’t have EDS. We simply aren’t sure of all the gene mutations yet.

The exam for EDS is a good, thorough basic physical examination. Classic type has a test that catches more than 50% of cases; Hypermobile type has no test, although there’s a possibility at least one of the causes has been identified (Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180584/ this is probably a cause of some forms of Hypermobile type). The test for Vascular type is 95+% accurate now; the rarer forms also have well defined tests.

Any doctor, really, can diagnose if they can know enough about how to assess the diagnostic criteria (for more look at http://www.ednf.org/index.php?option=com_content&task=view&id=1352&Itemid=8 8888970). They’re not complicated. However, most people wind up at a geneticist’s office because it’s hereditary.
There are some doctors who refuse to diagnose EDS because it’s so rare—this is just bad logic; of course it’s rare if no one diagnoses it because it’s rare. Rarity of a disorder has nothing to do with whether or not it applies to you personally. You will find doctors who don’t want to diagnose it because it’s not curable.

Remind them that even though it has no cure, the symptoms can be treated, and knowing you have a type of EDS gives you and your medical team some idea of where problems might come from and why they’re happening; if there ever is a cure, at least you’ll all know to use it; and the more of us who are diagnosed, the more likely it is EDS will get the attention we all need and the more likely researchers will work on finding a cure. Even knowing what type you have, your own case of EDS will be your own case; while knowing what might happen is helpful, you’ll probably have only a subset of symptoms and not the whole set.

EDS is a collection of genetic collagen defects. Each type of EDS is defined as a distinct problem in making or using one of the types of collagen.

Collagen is also the most abundant protein in the body, so effects can be wide-ranging in both location and severity. Collagen is what the body uses to provide strength and elasticity to tissue; normal collagen is a strong protein that allows tissue to be stretched but not beyond its limit, and then safely returns to normal.

With badly built or processed collagen, some of the tissue in your body can be pulled beyond normal limits, causing damage. Collagen is the most abundant protein in the body and can be found almost anywhere, in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on. EDS is really pretty “invisible”.

Some of the effects can be seen, but not all. Pain, for instance, can be widespread—it’s amazing how many places collagen is used in your body, including the fascia, the “Saran Wrap” that holds everything together and wraps around your entire body—but the pain isn’t going to show up in MRIs or X-rays, and will be probably be out-of-proportion to anything they can find.

You can find the genetic tests off the NIH’s main page for EDS genetics, http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome — the tests are identified in links at the bottom of the page.

For more information on specific types from NIH, also check out

• Ehlers-Danlos Syndrome, Classic Type http://www.ncbi.nlm.nih.gov/books/NBK1244/

• Ehlers-Danlos Syndrome, Hypermobility Type http://www.ncbi.nlm.nih.gov/books/NBK1279/

• Ehlers-Danlos Syndrome Type IV Vascular http://www.ncbi.nlm.nih.gov/books/NBK1494/ and http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1971255/

• Ehlers-Danlos Syndrome, Kyphoscoliotic Form http://www.ncbi.nlm.nih.gov/books/NBK1462/

• COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy http://www.ncbi.nlm.nih.gov/pubmed/21637106

Here are a couple of EDNF publications that might help:

What is EDS? http://www.facebook.com/note.php?note_id=10151543135885657

Pain, Physical Therapy, and Pain Management 2012 http://bit.ly/J9vZ8W

“So You Think You Might Have EDS?” http://www.ednf.org/index.php?option=com_content&task=view&id=1777&Itemid=8 8889242

An over-view of EDS which points out a lot of the problems is Dr. Clair Francomano’s “Ehlers-Danlos Syndrome Update 2011: What We Know—And What We Don’t Know” presentation at the 2011 EDNF conference, http://www.ednf.org/images/2011conference/Handouts/Francomano_EDS2011_What_ We_Know_2slides.pdf

The Prevalence of Non-Surgical Complications in the Ehlers-Danlos Syndrome http://www.ednf.org/index.php?option=com_content&task=view&id=1256&Itemid=8 8889208

What is EDS? http://bit.ly/II6QDW

Ehlers-Danlos Syndrome http://www.ednf.org/index.php?option=com_content&task=view&id=1650&Itemid=8 8889208

What are the types of EDS? http://www.ednf.org/index.php?option=com_content&task=view&id=1348&Itemid=8 8888969

The “EDS Guides” menu (on the left at http://www.ednf.org/index.php?option=com_frontpage and throughout the EDNF site) includes:

• EDS in Practice: Pediatric and Adult Clinical Checklists
• EDS Medical Resource Guide 2007
• EDS Medical Resource Guide 2010
• Dentistry Medical Resource Guide
• Emergency Room/Surgery Booklet
• Guide to EDS Child
• Ophthalmology Medical Resource Guide
• Pain Mgmt Medical Resource Guide
• Pain & Pain Management 2012
• Physicians Directory
• Ritter Rules
• Sports Poster
• Vascular Medical Resource Guide
• Vascular Primer
• VEDS Clinical Reference Manual
• EDS Wallet Card