Ten Facts About Ehlers Danlos Syndrome

Ehlers Danlos is an inherited disorder that compromises skin, joints, and connective tissues. The cause Ehlers Danlos Syndrome is a variety of genetic mutations that result in malformed collagen within the body. There are six major types and at least five minor types of Ehlers Danlos syndrome There is no cure for Ehlers Danlos syndrome. Instead symptoms are treated individually. People with Ehlers Danlos generally have normal life expectancy. Ehlers Danlos effects both men and women and people of all races. Individuals who have vascular Ehlers Danlos syndrome have a significantly increased risk of rupture of a major organ or blood vessel. Common symptoms include extremely elastic skin and very flexible joints.

Diagnosis of Ehlers Danlos can include collagen typing and collagen gene mutation testing.

EDS can also be deformed causing vision problems.

Ehlers Danlos syndrome can be prevented through genetic counseling for prospective parents.

Are There Any Further Complications of Ehlers Danlos Syndrome?

People affected by EDS often have quite a bit of pain stemming from the laxity of joints as well as the fragility of the skin. In the vascular form of EDS there is the possibility of rupture of the eyeball, hollow organs or major blood vessel. Because of the skins failure to heal properly often surgical wounds do not close properly or stitches tear through.

What Is Ehlers Danlos Syndrome?

Ehlers Danlos syndrome is an extremely rare inherited disorder that effects the formation of collagen within the body. This malformation of collagen causes a variety of symptoms that are generally not life threatening.

What Are The Symptoms of Ehlers Danlos Syndrome?

Symptoms of Ehlers Danlos syndrome include extremely soft, velvety and elastic skin as well as very flexible joints. The skin of individuals with EDS often bruises easily, heals poorly and scars. Joints dislocate, pop and show early arthritis. Quite often people with EDS have flat feet and joint pain. Women with EDS are at an increased risk of premature membrane rupture during pregnancy. The corneas of people with

How Do I Know Whether I Have Ehlers Danlos Syndrome?

If you suspect that you have Ehlers Danlos syndrome your doctor will go over your symptoms with you and will suggest either a skin biopsy to perform collagen typing or genetic testing to isolate mutations causing collagen malformation. Once an original diagnosis is made, then more specific typing can be done.

What Are The Different Types of Ehlers Danlos Syndrome?

Classical(types I and II)-Marked by skin hyperextensibility and joint hypermobility. Skin is very smooth, soft and fragile. Hypermobility(type III)-The dominant manifestation is this category is joint hypermobility specifically in elbows, knees, fingers and toes. Vascular(type IV)-Skin is thin and translucent especially over chest and abdomen. Arterial, intestinal or uterine fragility is a common cause of rupture and arterial rupture is the most common form of sudden death. X-Linked(type V)-This has only been found in one family and is extremely rare Kyphoscoliosis(type VI)-Joint laxity and general lack of muscle tone is present at birth. This type can lead to delayed gross-motor development and progressive scoliosis is present at birth Arthrochalasia(type VII a&b)-Extreme hypermobility in the hip joints is present in this type. Recurrent dislocation is common in this type as is fragile skin prone to damage and bruising.

Dermatosparaxis(type VIIc)-Severe skin fragility and substantial bruising. The skin is soft, doughy and sagging. How Is Ehlers Danlos Syndrome Treated? There is no cure. Rather that treating the syndrome as a whole, instead specific symptoms are treated. Physical therapy is often used to strengthen muscles and reduce joint pain and dislocation. Pain management is another issue addressed often in EDS