Ehlers Danlos Syndrome or EDS

Reviewed By: Pramod Kerkar, MD, FFARCSI

What is Ehlers Danlos Syndrome or EDS?

Ehlers Danlos Syndrome or EDS is the name given to a collection of inherited diseases usually affecting connective tissues, especially joints, blood vessel walls, and skin. Connective tissues are complex combination of proteins or other materials that usually provide elasticity and strength to the underlying structures of body.

Ehlers Danlos Syndrome

Overlying flexible joints and stretchy & fragile skin is usually noticeable in individuals suffering with Ehlers Danlos syndrome or EDS. These overlying flexible joints and fragile skin may create problem when there is wound that requires stitches as the skin is not strong enough to carry them.

The most severe type of disease known as vascular Ehlers Danlos syndrome or EDS may result in rupturing of intestines, uterus and walls of the blood vessels.

Is Ehlers Danlos Syndrome or EDS Life Threatening?

Some type of Ehlers Danlos syndrome or EDS, particularly the kyphoscoliosis and vascular types, can engage important and possibly life-threatening problem. Blood vessels can rupture impulsively, causing interior bleeding, shock and stroke.

Ehlers Danlos syndrome or EDS patients tend to get injured with no difficulty and some kinds of Ehlers Danlos syndrome also grounds atypical blemishes. Individuals with the traditional form of EDS face wounds that crack open with modest bleeding and cause blemishes that broaden eventually to create typical "cigarette paper" blemishes. The dermatosparaxis category of the disorder is described by skin that hangs down and rumple. Surplus folds of skin possibly will show as affected Kids get older.

Some varieties of Ehlers Danlos syndrome or EDS, particularly the vascular style and to a slighter extent the classical and kyphoscoliosis style can entail significant and potentially dangerous problems due to impulsive burst of blood vessels. Such rupture can ground internal bleeding, shock and stroke. The vascular category of Ehlers Danlos syndrome is too connected with an improved hazard of organ rupture, Involving crack of the intestine plus the womb through pregnancy. Individuals with the kyphoscoliosis type of Ehlers Danlos syndrome or EDS go through harsh, progressive curving of the backbone that can obstruct with breathing.

Types of Ehlers Danlos Syndrome or EDS

Ehlers danlos syndrome or EDS can be classified into different types depending upon the gene mutations that can be affecting structure of various collagens. However, all the types share features of joint laxity, lax ligaments, and fragile skin. Given below are the types of EDS.

  1. Classic Ehlers Danlos Syndrome or EDS (Also Called Type I-II): Classical features of Ehlers Danlos syndrome or EDS may include doughy, soft, hyper elastic skin. Appearance of multiple bruises especially on legs, splitting of skin over forehead, chin, knees and elbows is usually seen in childhood. Fibrous nodules over ankles and knee and blue sclera are few of the other features.
  2. Hypermobile Type Ehlers Danlos Syndrome or EDS (Also Called Type III): This is quite common type of EDS which is usually characterized by blue sclerae, ready bruising and tall stature. Acute joint hypermobility is seen in this type, but only moderate elasticity of the skin and almost no scarring. It is quite difficult to diagnose hypermobile type.
  3. Vascular Type Ehlers Danlos Syndrome or EDS (Also Called Type IV): Appearance of the skin is thin with associated venous patterns that are clearly visible; ecchymoses over shins and knees is usually seen in vascular type EDS. Early aging of skin on dorsum of feet, shins and hands along with nasal thinning, smaller earlobes and Madonna face with large eyes is also seen. Vascular type Ehlers Danlos syndrome or EDS spontaneously ruptures medium or larger arteries at any stage of life like from adolescence to elderly age. Arterial aneurysms also are generally seen in vascular type of Ehlers Danlos syndrome. Arterial rupture may also result in death. Sigmoid colon rupture is also quite common.
  4. Kyphoscoliosis Type Ehlers Danlos Syndrome or EDS (Also Called Type VI): Kyphoscoliosis type EDS usually results in early progression of fibrosis along with severe motor delays.
  5. Arthrochalasia Type Ehlers Danlos Syndrome or EDS (Also Called Type VII A and VII B): Arthrochalasia type EDS is characterized by dislocation of hip, short stature etc.
  6. Dermatosparaxis Type Ehlers Danlos Syndrome or EDS (Also Called Type VII C): Dermatosparaxis type Ehlers Danlos syndrome is mainly characterized by various features such as losing tooth early as well as acute periodontitis.

Causes and Risk Factors of Ehlers Danlos Syndrome or EDS

Various types of Ehlers Danlos syndrome or EDS depend upon the variety of genetic causes few of which are passed on from parent to child.

There are different kinds of genetic mutations that may cause problems with collagen, which is a substance that provides structure and strength to blood vessels, internal organs, skin, and bone. This abnormal presence of collagen results in the symptoms of Ehlers Danlos syndrome.

Sometimes the condition may also lead to rupturing of abnormal heart valves and internal organs. In some cases family history could also be responsible for Ehlers Danlos syndrome or EDS. In vascular type of EDS, there are 50 percent chances of passing of the gene from parents to each of their children.

Signs and Symptoms of Ehlers Danlos Syndrome or EDS

Signs and symptoms of the most ordinary form of EDS comprise:

  • The joints becoming overly flexible are the major sign of EDS. As the connective tissue which holds joints collectively is looser, the joints may move far beyond the ordinary range of motion. Minor joints are distress more than big joints. You may as well be able to contact your nose tip using your tongue.
  • Skin becoming very stretchy is one of the essential symptoms of Ehlers Danlos syndrome. Deteriorated connective tissue permits your skin to drag out much more than natural. You are possibly able to drag a bit of your skin up from your flesh; however it will shatter right reverse into place once you let it go. Your skin may also feel unusually velvety and soft.
  • Skin becoming very fragile is the common symptom of EDS. Injured skin normally does not cure well. For instance, the sutures applied to close damage often will rip out and place a wide open blemish. These blemishes may look slender and wrinkled.

Signs and symptoms severity can differ from patient to patient. Some patients with Ehlers Danlos syndrome or EDS normally have excessively flexible joints, but hardly any or not any of the desired skin symptoms. Signs and symptoms of EDS may include:

  • Easy scarring along with poor wound healing is a symptom of Ehlers Danlos syndrome.
  • Another symptom which is found in EDS is flatfeet.
  • Premature damaged, bruised, and stretchy skin.
  • Joint dislocation is a common sign of Ehlers Danlos syndrome.
  • Early rupturing of membranes at the time of pregnancy.
  • Soft and velvety skin.
  • Vision problems.
  • Early arthritis.
  • Increased joint mobility.
  • Joint popping and joint pain is a general sign of Ehlers Danlos syndrome.

Signs and Symptoms of Vascular Ehlers Danlos Syndrome or EDS

Individuals who are suffering from the vascular associate type of Ehlers Danlos syndrome repeatedly share unique facial features of prominent eyes, small earlobes, thin nose and thin upper lip. They in addition have thin, transparent skin that discolors simply. In fair-skinned individuals, the original blood vessels are vastly noticeable through the skin.

Vascular Ehlers Danlos syndrome or EDS is one of sever forms of disorder which can deteriorate your heart's biggest artery (aorta), in addition to the arteries to spleen and kidneys. A tear of one of the blood vessels may be critical. The vascular associate type also can deteriorate the walls of large intestines and the uterus- which may also tear.

In this type of a situation first you may consult your family doctor; however he or she possibly will ask you to consult a genetic diseases specialist.

Complications of Ehlers Danlos Syndrome or EDS

Complications for Ehlers Danlos syndrome or EDS depend on the sorts of signs and manifestations you have. For instance, excessively supple joints may result in joint displacement and early beginning of arthritis. Fragile skin might evolve into prominent scarring.

People who possess vascular EDS are in danger of often critical ruptures of bigger blood vessels. Some organs, like the intestines and uterus, also may tear. Pregnancy may increase these risks.

  • Long term joint pain is a complication of Ehlers Danlos syndrome.
  • Early beginning of arthritis is one of the possible complications of EDS
  • Failing of surgical injuries to close (tearing out of stitches.)
  • Impulsive split of membranes through pregnancy is a potential complication of Ehlers Danlos syndrome.
  • Split of major vessels, with a split aortic aneurysm (just in vascular EDS.)
  • Split of an unfilled organ like the bowel or uterus (merely in vascular Ehlers Danlos syndrome).
  • Eruption of the eyeball is a likely complication of EDS.

Tests to Diagnose Ehlers Danlos Syndrome or EDS

A thorough subjective and family history and physical examination is performed to diagnose EDS. Common findings on examination for Ehlers Danlos syndrome are:

  • Stretchy and fragile skin.
  • Extremely loose joints.

Genetic testing may help in diagnosing Ehlers Danlos syndrome or EDS and ruling out other causes.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: August 10, 2018

This article does not provide medical advice. See disclaimer

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