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Ehlers-Danlos syndrome

Definition


Disease: Ehlers-Danlos syndrome Ehlers-Danlos syndrome
Category: Dermatological diseases

Disease Definition:

A group of inherited disorders called Ehlers-Danlos syndrome (EDS) affect the connective tissues, primarily the skin, joints and blood vessel walls. In the case of EDS the production of collagen is disrupted by genetic mutations. This collagen is a chief component of connective tissue.

 

This syndrome is not common. It occurs in six major types, all of which affect the joints and most of them also affect the skin. Flexible joints that extend beyond the normal range of movement and skin that’s especially stretchy or fragile are some of the more prominent symptoms of this syndrome.

 

Having normal but very flexible joints or “double joints” is not the same as in Ehlers-Danlos syndrome.

 

Usually, treatment for this syndrome focuses on managing the signs and symptoms of the particular type of the syndrome that someone has.
 

Work Group:


Symptoms, Causes

Symptoms:

The severity of the signs and symptoms of this syndrome could vary widely, and some people may experience greater difficulty than others do. However, some of the general signs and symptoms of this syndrome include:

 

  • Abnormal wound healing and scars that stretch over time
  • Skin that’s especially stretchy or fragile
  • Muscle weakness
  • Easy bruising
  • Delayed motor development
  • Flexible joints that extend beyond the normal range of movement
  • Hernias
  • Heart problems, including aortic root dilatation, mitral valve prolapse and spontaneous rupture of large arteries.
  • Discoloration of the shoulder, knee, fingers, wrist, hip and collarbone
  • Family history of ruptured uterus, colon or brain aneurysm.

 

As mentioned before, this syndrome is divided into six major groups depending on specific diagnostic criteria:

 

CLASSICAL TYPE:

This type, formerly known as types I and II, affects about one in 20,000 to 40,000 people, and its signs and symptoms may include:

 

  • Hernias
  • Highly elastic, velvety skin
  • Fragile skin that bruises or tears easily
  • Slow and poor wound healing, which leads to wide scarring
  • Heart valve problems, such as mitral valve prolapse
  • Loose joints that are prone to dislocation and may delay the development of large-motor skills, particularly when a child starts to walk
  • Noncancerous fibrous growth on the elbows, knees or other pressure areas, and fatty growths on the shins and forearms.

 

HYPERMOBILITY TYPE:

This type, formerly known as type III, is the most common type. It affects about one in 10,000 to 15,000 people, and its signs and symptoms may include:

 

  • Soft, velvety skin
  • Loose and unstable joints
  • Chronic degenerative joint disease
  • Heart valve problems, such as mitral valve prolapse
  • Advanced premature osteoarthritis with chronic pain.

 

KYPHOSCOLIOSIS TYPE:

This type is quite uncommon and has only a few cases reported worldwide. Some of its signs and symptoms include:

 

  • Muscle weakness
  • Fragile eyes that are easily damaged or ruptured
  • Increased risk of rupture of medium-sized arteries
  • Progressive curvature of the spine, a condition known as kyphoscoliosis, along with respiratory problems, in case it is severe.

 

VASCULAR TYPE:

This type, formerly known as type IV, is one of the most serious forms of EDS, which affects about one in 250,000 people. Some of its signs and symptoms may include:

 

  • Veins, that are visible under the skin
  • Thin, fragile skin that bruises easily
  • Loose joints, limited to the fingers and toes
  • Characteristic facial appearance, such as protruding eyes, sunken cheeks, thin nose and lips and small chin
  • Fragile blood vessels and organs that are prone to tearing, a condition that causes complications, including ruptured intestines, a ruptured or dissected artery or aneurysm or a ruptured uterus during pregnancy.

 

DERMATOSPARAXIS TYPE:

Also rare, this type has only about a dozen cases reported worldwide and its signs and symptoms include:

 

  • Short stature
  • Short fingers
  • Umbilical hernia
  • Extremely fragile and sagging skin
  • Loose joints that may delay development of motor skills in children
  • Delayed closure of the fontanels, which are the soft areas at the top of a baby’s head
  • Characteristic facial appearance, including swollen eyelids and a bluish tinge to the whites of the eyes.

 

ARTHROCHALASIS TYPE:

Also rare, this type has only 30 reported cases worldwide and some of its signs and symptoms are:

 

  • Early onset arthritis
  • Increased risk of bone loss and fracture
  • Stretchy, fragile skin that’s prone to bruising and scarring
  • Very loose joints and dislocation of both hips present at birth.

 

OTHER TYPES:

There are also some rare cases of EDS and they are so rare that they have been described in only a few families and the relationship of some of these types to the syndrome as a whole isn’t well-defined yet.
 

Causes:

A variety of genetic mutations or alterations that disrupt the normal production of collagen cause the subtypes of Ehlers-Danlos. The fibrous protein that gives strength and elasticity to connective tissues, including the skin, tendons, ligaments, cartilage and organ and blood vessel walls is called collagen.

 

The normal enzyme activity is altered by these genetic mutations that pass on from parent to child, and the connective tissues are left weak and unstable.

 

VARIETY OF INHERITANCE PATTERNS:

Most of the types of EDS are passed along in autosomal dominant, which is an inheritance pattern. This means that in order to develop signs and symptoms of this disease, a person needs only one copy of the disease-causing mutation, inherited from either parent. In case a person has inherited the mutation, there’s a 50% chance that they will pass the gene on to each of their children.

 

Dermatosparaxis and kyphoscoliosis are two types of EDS that are passed along in an inheritance pattern known as autosomal recessive, which means that a person will need two copies of the mutated gene to develop the disease. They will be considered a “carrier” of the disorder in case they inherit only one copy, and they won’t develop any signs or symptoms.

 

These are the ways in which different EDS types are inherited and the genetic mutation each one is associated with:

 

  • The dermatosparaxis type of the disease is inherited in the autosomal recessive manner of inheritance. In this case, people have insufficient activity of the enzyme procollagen N-proteinase.
  • The classical type is inherited by the autosomal recessive and autosomal dominant subtypes. 50% of people with this type of EDS have a mutation in the COL5A1 or COL5A2 gene.
  • The kyphoscoliosis type is passed on in the autosomal recessive manner of inheritance. People with this type of the disease experience deficient activity of the enzyme lysyl hydroxylase 1, which is encoded by the PLOD1 gene.
  • The hypermobility type is passed on in an inheritance pattern known as autosomal dominant. The genetic association of this type is mostly unknown; however, a few people have had a mutation in the tenascin-X gene.
  • The arthrochalasis type of the disease is inherited in the autosomal dominant manner of inheritance. People with this type of the disease have mutations in the COL1A1 or COL1A2 gene.
  • The vascular type is inherited in the autosomal dominant manner of inheritance. People with this type of the disease have mutations in the COL3A1 gene.
     

Complications

Complications:

Even though people with Ehlers-Danlos syndrome have restrictions to physical activity, but most of them live a relatively normal life and their intelligence isn’t affected by EDS.

 

Ranging from mild to severe, the signs and symptoms of EDS vary widely in severity and although the complications usually depend on a person’s individual situation but some of the common ones are:

 

  • Early-onset arthritis
  • Chronic joint pain
  • Prominent scarring
  • Joint dislocation
  • Premature aging with sun exposure
  • Difficulty with surgical wounds; stitches may tear out and healing may be incomplete.

 

People who have the vascular type of EDS are at risk of serious complications, such as rupture of major blood vessels or organs, including the uterus or intestines. These are complications that could be fatal. By the age of 20, about one in four people with vascular type EDS develop a significant health problem, and by the age of 40, almost 80% of the people with this type of EDS develop complications. 48 years is the median age of death.

 

A person’s risk of eye problems is increased if they have kyphoscoliosis type, and they might have to be monitored by an eye specialist who has experience with EDS complications.

 

Some people may develop osteoporosis if they have Ehlers-Danlos syndrome. In order to increase bone density, osteoporosis is treated with prescription medications and the patient may also benefit from specific physical therapy exercises.

EDS and pregnancy:

A woman will have a risk of premature delivery in case she has EDS and she’s pregnant. In case the baby has EDS, there will be a risk of premature rupture of the membranes surrounding the baby. There’s also a risk of excessive bleeding in both cases.

The pregnancy will be closely monitored for any signs of complications.

The patient may be advised against becoming pregnant in some cases, due to the high risk of complications, such as bleeding or organ rupture.
 

Treatments:

The genetic alterations that cause Ehlers-Danlos syndrome cannot be reversed and because of this, treatment will focus on managing individual signs and symptoms and preventing future complications. Treatment consists of self-care strategies to protect the patient’s joints and prevent excessive bruising and injuries. Surgery, medical genetics, pediatrics, ophthalmology, orthopedics and cardiology are some of the fields that the patient could chose his/her specialists from that will be in their health care team.

 

The patient should make sure the surgeon knows that they have Ehlers-Danlos syndrome if they want to undergo surgery. In order to close up the incisions, adhesive tape or medical glue could be used rather than stitches because they may tear out of fragile skin.
In order to repair joints that are damaged by repeated dislocations, surgery may be an option. However, elective surgery is not recommended.

 

The patient should also talk to a doctor in case they have chronic joint pain in order to help manage the pain, which could include physical therapy, pain relievers or both. The physical therapist could also help the patient organize an exercise program in order to strengthen the muscles, which in turn will help stabilize the joints. People with EDS should avoid weightlifting or any other activities that put pressure on locked joints. The appropriate exercises will be determined by the doctor or physical therapist.

 

Some reports have indicated that vitamin C could help reduce the severity of kyphoscoliosis symptoms; however, this hasn’t been established. In case someone with this condition is thinking of taking a vitamin C supplement, they should talk to their doctor first.
 

Prognosis:

Not available

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