This excellent summary writeup is by Shani Weber. She has years of experience as the moderator of the Inspire.com EDS forum, and is a tireless patient advocate, traveling to conferences and giving expert testimony to Congress, despite the chronic pain and limitations of EDS that she lives with.
Her EDS summary articles are a precious source of well-organized and pertinent information provided to newly diagnosed EDS patients on the forum. Shani is an inspiring example to us all.
Benign Hypermobility Syndrome vs EDS
There is not universal agreement in the medical community, however the majority of the EDS experts believe EDS, Hypermobility type and Benign Joint Hypermobility Syndrome are the same thing: http://issuu.com/markmartino8/docs/2009_tinkle_ajmg_parta
In Ohio, if you can get to Cincinnati, Dr. Nielsen is your closest EDS expert: http://www.cincinnatichildrens.org/bio/n/derek-neilson/
Diagnosis of Ehlers-Danlos Syndrome (EDS) is done through examination (http://www.ednf.org/eds-diagnosis). An EDS exam for diagnosis probably will include testing skin for what it feels like, how much it stretches, finding the Beighton Score for testing hypermobility (http://www.ednf.org/assessing-joint-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 of EDS has a genetic test that catches more than 50% of cases; Hypermobile type of EDS has no genetic 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 of EDS also have well defined tests.
Any doctor, really, can diagnose EDS if they can know enough about how to assess the diagnostic criteria (for more look at http://www.ednf.org/nosology). They are not complicated. However, most people wind up at a geneticist’s office because it can be 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 Vascular Type http://www.ncbi.nlm.nih.gov/books/NBK1494/ and http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1971255/
• Ehlers-Danlos Syndrome, Kyphoscoliotic Type http://www.ncbi.nlm.nih.gov/books/NBK1462/
• COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome Vascular type with delayed onset of complications and longer life expectancy http://www.ncbi.nlm.nih.gov/pubmed/21637106
Here are some additional articles that may help you:
What is EDS: http://www.ednf.org/what-eds
EDS Frequently Asked Questions: http://www.ednf.org/eds-faqs
EDS in Practice: http://www.ednf.org/eds-practice
EDS Ophthalmology Medical Resource Guide: http://www.ednf.org/ophthamology-resource-guide
Emergency Room and Surgery Information: http://www.ednf.org/emergency-room-information
Pain Management Medical Resource Guide: http://www.ednf.org/pain-management-resource-guide
Pain Management article by Mark Martino: http://www.ednf.org/sites/default/files/loose-connections/LooseConnections_ 2012_Spring_rev.pdf
An Educator’s and Parent’s Guide to the EDS Child: http://ednf.org/sites/default/files/EDNF_ParentsGuideForEducators.pdf
The EDS Wallet Card: http://ednf.org/sites/default/files/EDNF_WalletCard2010S.pdf
EDNF Center for Clinical Care and Research: http://www.ednf.org/ednf-center-clinical-care-research
And just for informational purposes about the forum settings in addition to the Community Guidelines (http://www.inspire.com/about/guidelines/) at the bottom of each page…
Thank you, Shani, for letting me share your valuable work on this blog.