Ehlers-Danlos Syndrome
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What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a genetic disorder of the connective tissue caused by the deficiency in collagen synthesis. A connective tissue provides support and strength to the skin and muscles, but in EDS, the collagen in connective tissue is faulty.

Thus, EDS causes problems with the skin and joints and makes them hyper elastic, fragile and excessively loose. The joints become lose, blood vessels are easily damaged, skin gets easily bruised and the rupture of the internal organs might also happen. Condition in EDS might range from mild to severe to life-threatening and is incurable.

How is Ehlers-Donlos Syndrome Classified?

Majorly, Ehlers-Donlos Syndrome is classified into six major types:

Hypermobility type 3 -- This type of EDS cannot be diagnosed via skin or tissue samples. Rather, it can be diagnosed by making some clinical observations. Symptoms like easy bruising, velvety-smooth skin, mildly hyperextensible skin, and loose, unstable joints, joint dislocations and subluxations are often seen.

Classical types 1 and 2 -- Apart from the joint and cardiac features noted in the first type, this type of EDS is also featured by soft, highly elastic, velvety skin which may tear, bruise, or scar easily and/or be slow to heal, along with the tendency to develop fatty growths in pressure areas.

Vascular type 4 -- it is amongst the most severe form of EDS, where life expectancy is around 48 years only. It is featured by delicate skin, fragile blood vessel walls and organ membranes with a tendency to rupture, along with showing hypermobility in fingers and toes.

Thin translucent skin, arterial/intestinal/uterine fragility or rupture, extensive bruising, characteristic facial appearance (large protruding eyes, small chin, thin nose and lips, lobeless ears) are few other characteristics associated with this type of EDS.

Kyphoscoliosis type 6 -- this is an autonomic recessive defect, which happens due to the deficiency of lysyl hydroxylase enzyme. It is a very rare form of EDS. Progressive scoliosis, progressive severe weakness of muscles, and fragile sclera are few of its symptoms.

Arthrochalasis types 7A and 7B-- Also very rare, it is characteristic of very loose and unstable joints, including the hips, which may lead to early and/or severe osteoarthritis and fractures, and stretchy, fragile skin

Dermatosparaxis type 7C -- Extremely rare, this type of EDS combines loose and unstable joints with extremely fragile skin which loses elasticity.

Causes of Ehlers-Danlos Syndrome

Defects in various genes result in the different forms of EDS. Mutations in these few genes effects the structure, production and processing of the collagen or the proteins interacting with the collagen. This defective collagen results in weakening of the connective tissue in the skin, bones, blood vessels and organs.

An autonomic dominant pattern results in the inheritance of most of the forms of Ehlers-Donlos Syndrome, where only one of the two copies of genes need to be altered to cause this disorder. Meanwhile, a minority of the forms of Ehlers-Donlos Syndrome also need an autonomous recessive pattern, that is both genes need to be altered, in order to cause the disease.

Symptoms of Ehlers-Danlos Syndrome

The symptoms vary from mild to severe depending on the severity of the condition. The symptoms which can be seen usually include increased joint mobility, loose joints that are prone to dislocation, subluxation and are hyper mobile, skin gets easily damaged, bruised and stretched, visual difficulties, peg teeth etc... In the Classic EDS type, the skin forms cigarette-paper-like scars. The serious type of EDS, Vascular EDS, can lead to death by rupturing the blood vessels and organs.

Some cross-over features and symptoms of one or more types of EDS have also been observed, that is many types can have common features. Due to the Ehlers-Donlos Syndrome, some complications may arise like poor wound healing, early onset of osteoarthritis, rupture of blood vessels, hollow organs such as bowel, eyeball, lung etc.

Who's affected by Ehlers-Danlos Syndrome?

It is observed that at least one in five thousand people is affected by Ehlers-Donlos Syndrome. This disease affects all sexes and races equally.

Treatment of Ehlers-Danlos Syndrome

Ehlers-Donlos Syndrome is incurable, though problems can be treated as they arise. Precautionary measure should be taken to reduce accidental trauma, such as protecting the elbows and lower legs against frequent falls. Unstable joints can be given support with the use of braces, while in the long run, a surgery may be required. Regular physiotherapy will help, while an occupational therapy advice might help too. Since the Ehlers-Donlos Syndrome results in physical disfigurement, the person or child suffering from it might also require strong psychological support.

Usually, people can go for genetic counseling, along with going for antenatal tests in order to check and prevent for the Ehlers-Donlos Syndrome.

Post Your Comments

Comment Script


I have symptoms of hypermobility,severe chronic pain, Joints that fail requiring either fusion or replacement, \"triple vision\", dental problems, easy to bleed and bruise, toughened tumor-like growths on my legs, sphenoidal tumor-like growth in my forearm, Valves appearing at 1/4 to 1/2 inch intervals in the veins in the back of my hands all the way up to my shoulders making starting IV very difficult. Have had difficulty getting a defenite dyagnosis. Some doctors say yes for sure others say no, just Osteoarthritis with some additional more unusual symptoms. How do I know for certain whether or not this is EDS?
#1 - Sandra Barr - 07/06/2009 - 11:03
It took me 30 years to get a proper diagnosis for Ehlers-Danlos Sydrome, and in (of all places) Alaska, within 20 minutes by a neurologist there. I have been to many, many, many Dr.s in the past 30 years, until this positive diagnosis that was confirmed at a hospital in Seattle, WA. For the dental problems I used "tea tree oil" [4-6 drops added to my toothbrush before the toothpaste] that completely eliminated the bleeding gums, deep pockets around my teeth and periodontal disease (that is found in high degree with heart problems). My grandmother often suffered subluxation of her knees (they just fell out of joint and she had to pound them back in with her hand before the swelling got too bad), my sisters and even my children have this too. I have the velvety skin described in one of the Ehler-Danlos types. My knee problems started when I was a teenager, and my father has had total knee replacement in both knees. Our knees and shoulders seem to be affected - I have several rotator cuff tears on both shoulders, and a completely severed muscle and tendon in one. In both my knees I no longer have intact anterior cruciate ligaments, and have torn posterial and menial meniscus ligaments in both also. I am currenlty suffering from extreme fatigue that no one can pinpoint, other than to say maybe its' all the pain I suffer moving around. Swimming seems to help strengthen my muscles without tearing up my joints, and I feel "free" to move around when I get into the water. If you want to email me to network about this condition, my email is [email protected]
#2 - D Nelson - 07/25/2009 - 17:45
i am 77 yr old female. i also have eds. i lost 18" o my colon. lost the motolity in my esophagus.lost the connective tissue in foot, wear a brace. lost the connective tissue in wrist & 3 fingers. i wear a hand brace & the fingers were in a cast for a long time. my elbow is starting to deteriate. i am extremely tired all the time.i am double jointed. my knees pop out. my skin is thin & covered with scars & bruses & corn size one knew what was wrong with me.i need allot of help now.i still can't lift heavy things or open jars or muscles have deterated & my skin hangs. i live in utah.
#3 - averill conta - 12/25/2009 - 07:36
I was diagnosed with E.D.S. after 5 years of doctors saying that me dislocating bones and seizing with no reason was normal. I've now become used to my clumsiness and do not dislocate things as often. But now I have several different red marks under my skin that are all over my body... Im wondering if E.D.S. can cause Luekemia.. Can it? I have no medical insurance right now, and I have many different symptoms for luekemia...Please help.
#4 - Joanna Small - 08/04/2010 - 02:50
I was diagnosed 3 yrs ago by my sister of all people. Then confirmed by 2 independent ruemotologists(sp). My Mother had eds and never knew anything more than she bruised easily. I not only bruise easily, far from it. I'm double jointed all over the place but not to the point of dislocations. Blood vessels in my fingers rupture for no reason. I was born with club feet and they told my Mother I would be blind(though I am not). I too lost 18" or so of my colon about 6 months ago. My Aunt had a vessel burst inside her head while she was driving. They said it killed her almost instantly. It was a m[@]ive hemorrhage. I developed epilepsy (or had my first seizure on my 46th birthday. Happy Birthday! I am now 52. I have outlived their average life span of 48. I don't know who came up with that number but it pops up now and then. I do live a fairly normal life except for the epilepsy and constant trips to get stitches. Going to the Doc today to get some removed from my recent colon surgery. I wish all of you great luck and I love you all. There is nothing preventative you can do about the progression of eds, so do what you can to enjoy your life, and take things as they come. They could have named it after me. My name is Dan Eller.
#5 - D Eller - 03/16/2011 - 13:31
I have type iv eds I've had tonsils removed, thyroidectomy, Caesarian, choloectomy at the same time as surgery to remove part of my colon and washout surgery one week later was well as laparoscopy of gynae investigations I'm now 36 and there's not much left to remove but I'm glad I've survived all these surgeries despite VEDS
#6 - Jennifer - 06/12/2011 - 13:28
i am suffered from EDS yet iam doing my job normallt in a PHARMACEUTICAL COMPNEY.In a month for two-three days i am feeling very much mentally tiredness,i am feeling that after complete sleep rest feeling restlesness. You can contact me +919729298203 Regarding this.E-mail ; [email protected]
#7 - vijay kumar sharma - 07/14/2011 - 23:45
4 yrs ago my daughter wanted me to read a fictional book about an artist. The storyline lead to the artist describing someone with EDS. The symptoms descibed, I had faced since childhood. I then went to a doctor with my symptoms written down. After informinghim of my symptoms, with a smirk on his face he said, "In all my years of practicing medicine, I've only had one patient with EDS." After examining me, he agreed that I did have EDS. Most of my symptoms have already been mentioned here. I suffer with severe COPD, to the point of having a bilateral lung volume reduction 3 yrs ago. My age of severe lung problems began at age 40. Pulmonary doctors agreed that the degree of my lung problems at such an early age are related to EDS.
#8 - Donna - 10/11/2011 - 13:17
My husband has EDS he is 29 yrs old and completely disabled. He is having severe pain and is on pain meds that are not working. He is sooo depressed and does nothing but sleep and get in the tub to soak and sleep in his heated blanked. He cant walk without his hips dislocating daily, they are what is causing him so much pain this week. We have a 6yr old that has the same disease if any of you would like to talk to him please call us at 435-225-2960 He would love to speak to someone who understands what he is going through.. thank you
#9 - toni scott - 12/29/2011 - 21:03
I really encourage the people who claim they have EDS just because they have a few symptoms to see a Rheumatologist and a Geneticist to verify your diagnosis with a biopsy. There is no way that you can walk into your doctor, relay the symptoms that you are having, and expect an accurate diagnosis. Please get tested further. This disease is often mislabeled as other diseases such as Fibromyalgia but that can work both ways....people with Fibromyalgia may think or [@]ume that they have EDS.
#10 - Gail - 09/15/2015 - 10:05
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