EDS in Depth
Q&A about Ehlers-Danlos Syndrome
by Jan Groh, EDS patient & support group leader
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndrome (EDS) is a group of genetic collagen defects that affect a wide array of body systems, but most notably our joints in the form of subluxations (partial dislocations) and full dislocations and secondary arthritis. The word “syndrome” represents the myriad of seemingly unrelated symptoms this condition comprises. There are presently six main types recognized, though many new subtypes and mutations are discovered all the time.
What is the most common type of EDS and how is it diagnosed?
The most common is Type III- Hypermobility Type, or HEDS which can only be diagnosed clinically (by careful physical examination by a trained doctor) aided by a thorough family history. (The 5 more rare types have single tissue markers or blood tests available now). Type III EDS (Hypermobility Type) has been known variously in the past as Hypermobility Syndrome (HMS), Joint Hypermobility Syndrome (JHS) and Benign Joint Hypermobilty Syndrome (BJHS). The leading specialists including Drs. Grahame (UK), Keer (UK), Tinkle(US) and Bravo(CL) agree these should all just be called EDS III now. This article by Dr. Jaime Bravo of Chile describes when to suspect the diagnosis of Ehlers-Danlos type III, also called Joint Hypermobility Syndrome (JHS). (Posted with permission of Dr. Jaime S. Bravo, Luis Thayer Ojeda 0115, Santiago, Chile, December 2012).
What is hypermobility and how does it relate to EDS diagnosis?
People with EDS (all types) almost always have very flexible joints (so called “double-jointed” or “bendy” people), at least in childhood, although some are never very hypermobile or flexible, and others become much less so with age. Some rarer forms like Type IV Vascular can affect the vascular system and other organs or GI tract in very serious and even life-threatening ways, although people are managing to defy the odds every day. Some just hypermobile (flexible) people never experience symptoms either, so the 9 point Beighton hypermobility scale (developed by Peter Beighton) is not the only criteria for diagnosis. Hypermobility itself is just a trait, like red hair color. EDS is hypermobility plus symptoms. (You can actually score a 0 by age 50 on the Beighton hypermobility scale and still have HEDS (aka EDS III/HMS/JHS/BJHS). See the updated Brighton Diagnostic Criteria for more on this and seek out a knowledgeable medical geneticist or rheumatologist for proper diagnosis.
Wait a second… I am confused. My “collection of symptoms” match some descriptions of EDS, but not others. Also, my symptoms are milder than some descriptions I’ve read…
Can EDS symptoms run a “spectrum” from mild to severe, and it can affect multiple body systems?
Age and severity of onset vary quite widely from very mild (almost undetectable) to quite severe – from one individual to the next. Also, this genetic disorder can appear to skip a generation or a mutation can arise spontaneously, lending to the diagnostic confusion. Though some lucky people never have a major problem, all super-flexible people should take care and try to check so as to avoid any permanent injuries or dislocations over time. You can be fine one day, and then suddenly start to sublux or dislocate one or more joints more permanently, as well as developing arthritis in such loose joints. This is part of the reason it takes more than 10 years, on average, to be diagnosed…. since patients present with such a widely varying constellation of seemingly unrelated symptoms – everything from myopia to IBS, TMJ, hernias, migraines, low blood pressure, hemorrhoids and flat feet – until a doctor realizes the common collagen “thread” running through them all. EDS is often accompanied by symptoms of dysautonomia (low BP, poor temp regulation, Raynaud’s) to some degree, and may include POTS (postural orthostatic tachycardia syndrome) or NMH (neurally mediated hypotension), poor temperature regulation or GI motility issues. Due to the genetic nature of the disorder, you will often notice a family history in hindsight – if it wasn’t previously apparent.
Is there a cure for EDS?
Although there is currently no cure, it is extremely important to be diagnosed, so that the condition can be managed and precautions can be taken in certain situations. There are optimal treatments and therapies for mitigating the symptoms which will vary from person to person with a few common “themes”. Therapies may include: optimized nutrition, blood pressure control, careful isometric core-building PT customized to the individual (a program which avoids injury and strengthens loose joints), and pain management as needed. Always consult your doctor first to determine the right treatment for you. It is vital for EDS patients to stay as conditioned as possible at all times, while avoiding injury, which can be quite challenging.
Why the zebra mascot?
The zebra is our “rare disease” mascot, since it is said doctors are trained to “think of horses when they hear hoofbeats”… “Horses” refer to the more common explanation or disease when hearing symptoms (hoofbeats). A “zebra” would be the less expected other possibility (at least in the western US). We would like to reverse that thought process if possible. In recent years, its been discovered that 95% of Ehlers-Danlos Syndrome (EDS) sufferers are still undiagnosed. EDS experts no longer believe EDS is a rare disease, but the zebra has remained a popular representation.
Is Ehlers-Danlos Syndrome rare – or just rarely diagnosed?
Only 5% of Ehlers-Danlos Syndrome (EDS) sufferers are correctly diagnosed*. It’s been estimated that EDS affects more than 1 in 5,000 people worldwide. But, experts think that’s conservative. Each year in the US, 650,000* additional sufferers are un-diagnosed or misdiagnosed due to physician oversight or lack of knowledge about EDS. (*Estimate is according to a study in the UK by Dr. Rodney Grahame.)