EDS (Ehlers-Danlos Syndrome)
Pictured above are my hands..people with EDS have abnormal flexibility of their joints.
So...What is EDS??...
Ehlers-Danlos Syndrome (EDS) is a genetic connective tissue condition characterised by skin extensibility, joint hypermobility and tissue fragility. There are six different types of EDS and they are classified according to signs and symptoms.
EDS is caused by a defect in a protein called collagen. There are more than 30 different types of collagen and it is the main building block of the body providing strength and support. Examples of areas it affects are ligaments, tendons and organs. Consequently, when the collagen itself is defective, it can produce many problems throughout the body.Diagnosis is based on the presenting symptoms and family history of a patient. Many EDS sufferers, however, do not fit conveniently into the definition of a specific type, and are frequently misdiagnosed.
A skin biopsy may be taken to confirm the diagnosis and determine the type of the six types of EDS, the Hypermobility type is the only one that does not have a specific test. In the other five cases, the specific gene mutation has been identified and can be tested for. All tests may not even show the gene to diagnose it, not all tests are reliable it is never a 100% positive and is hard to diagnose.
The prognosis depends largely on the type of EDS the patient has. Life expectancy in the Vascular Type (formerly type lV) is generally shortened to around 40 years due to the rupture of large blood vessels and the major organs. Pregnancy can be life-threatening in the Classical (formerly types I and II) and Vascular Types. In most of the other types of EDS life expectancy does not tend to be shortened.
Prominent signs and symptoms of Ehlers-Danlos syndrome include stretchy, fragile skin and flexible joints that extend beyond the normal range of movement. * Joint pain especially of the neck, lower back, neck, ankles and wrists* Easy bruising and in some cases severe bruising even from minor injuries.* Blurry vision from "floaters" in the eyes*extremely soft, velvet like skin, skin that is very thin and translucent also stretchy skin.* muscle weakness* poor wound healing and scar that are very thin, soft and are like "cigarette paper"* dislocations of joints are very common or they can "pop" there joints.* Cardiovascular problems as well as early onset osteoarthritis are both common problems associated with this disorder.* gastrointestinal complications are common such as Irritable Bowel Syndrome and Slow transit gut and bowel syndrome, delayed emptying of food.
Types of EDS:
CLASSICAL (formerly EDS I & II gravis and mitis type)
Major: Skin hyperextensibility; widened thin scars; joint hypermobility
Minor: Smooth velvety skin; molluscoid pseudotumours; complications of loose joints; muscle hypotonia; easy bruising;
manifestations of tissue extensibility (hernia, cervical insufficiency, etc.); positive family history.
HYPERMOBILITY (formerly EDS III hypermobile type )
Major: Generalised joint hypermobility; skin hyperextensibility and smooth or velvety.
Minor: Recurrent joint dislocations; chronic limb and joint pains; positive family history.
VASCULAR (formerly EDS IV arterial or ecchymotic type)
Major:Arterial/intestinal/uterine fragility or rupture; easy bruising; characteristic facial appearance.
Minor: Hypermobility of small joints; tendon and muscle rupture; club feet; varicose veins; positive family history; sudden death in close relative.
KYPHOSCOLIOSIS (formerly EDS VI ocular or scoliosis type)
Major: Generalised joint laxity; severe muscle hypotonia in infancy; scoliosis present at birth and progressive; fragility of the sclera of the eye.
Minor: Tissue fragility; easy bruising; arterial rupture; Marfanoid body shape; microcomea; skeletal osteopenia on X-ray; positive family history of affected siblings.
ARTHROCHALASIA (formerly included in EDS VII)
Major: Severe generalised joint hypermobility with dislocations; congenital bilateral hip dislocation.
Minor: Skin hyperextensibility; tissue fragility and scarring: easy bruising; muscle hypotonia; Kyphoscoliosis; skeletal osteopenia on X-ray; positive family history.
DERMATOSPRAXIS (formerly included in EDS VII)
Major: Severe skin fragility; sagging, redundant skin.
Minor: Soft, doughy skin texture, easy bruising; premature rupture of foetal membranes; hernias.
People with vascular type EDS are at risk of serious complications because of the fragility of blood vessels and organs. Serious complications of vascular type EDS include tearing (rupture) of major blood vessels, such as a ruptured or dissected artery or an aneurysm, or rupture of organs, such as the intestines or uterus. These complications can be fatal. About 1 in 4 people with vascular type EDS develop a significant health problem by age 20, and more than 80 percent develop complications by age 40. The median age of death is 48 years.
Some people with Ehlers-Danlos syndrome may develop osteoporosis. Osteoporosis is generally treated with prescription medications to increase bone density. Specific physical therapy exercises may help, too.Pregnancy and EDS
Most women with EDS can have successful pregnancies. However, having EDS puts you at higher risk of premature delivery, postpartum hemorrhage and poor wound healing after delivery. Anesthesia during labor also can be difficult.
women who have vascular type EDS, pregnancy can be dangerous. The increase in blood volume and cardiac output puts more demand on your fragile blood vessels and organs, and there's a high risk of aortic or uterine rupture, both of which can be fatal.
Beighton Score This is a scoring system that allows you to see what the criteria is for assessing joint hypermobility.
In the menu at the top of this website on the page called "useful LINKS" you will find sites for information about EDS and also a link to a site where you can view the "beighton score"