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Ehlers-Danlos syndrome Causes, Symptoms and Treatment

The Ehlers-Danlos syndrome is a group of genetic diseases characterized by abnormal connective tissue , that is to say the supporting tissues.

There are different variants of the disease, most of them have hyperlaxity of the joints , very elastic skin and fragile blood vessels . The syndrome does not affect intellectual abilities.

The Ehlers-Danlos syndrome is named after two dermatologist doctors, one Danish, Edvard Ehlers and the other French, Henri-Alexandre Danlos. They alternately described the disease in 1899 and 1908.

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Causes Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a genetic disorder that affects the production of collagen, a protein that gives elasticity and strength to connective tissues such as skin, tendons, ligaments, as well as the walls of organs and tissues. Blood vessels. Mutations in different genes (eg ADAMTS2, COL1A1, COL1A2, and COL3A1) would be responsible for the variable symptoms of different forms of the disease.

Most forms of Ehlers-Danlos syndrome (SEDE) are autosomal dominant. A parent carrying the mutation responsible for the disease has a 50% chance of transmitting the disease to each of his children. Some cases also appear by spontaneous mutations.


Most people with Ehlers-Danlos syndrome have a relatively normal life, although they have restrictions on physical activity. Complications depend on the type of ADS involved.

  • Important scars .
  • Of chronic joint pain .
  • Early arthritis.
  • An aging prematurely due to exposure to sunlight.
  • Osteoporosis.

People with vascular type SED (SED type IV) may experience more serious complications, such as rupture of important blood vessels or organs such as the intestine or uterus. These complications can be fatal.


The prevalence of all forms of Ehlers-Danlos syndrome in the world is approximately 1 in 5,000 people. Of those affected, the hypermobile type , the most common type, is estimated at 1 in 10,000 cases, while vascular type , rarer, and is present in 1 out of 250 000 cases. The disease seems to affect both women and men.

Symptoms of Ehlers-Danlos syndrome

The severity of the symptoms varies greatly from one person to another, but most present:

  • An extensible skin, very thin and translucent . Slow and difficult scarring, repeated bruising, early stretch marks even in children.
  • Very flexible joints.

The most common forms of the disease, either the classic form (SED type I and II), the hypermobile form (SED type III) or the vascular form (SED type IV) include different combinations of symptoms:

  • An excessive fatigue .
  • Muscular, joint or abdominal pain, chronic and diffuse throughout the body.
  • Repetitive dislocations and sprains.
  • Respiratory failure, sometimes mistakenly identified as asthma.
  • Fragility of the blood vessels and organs, subject to tears, especially in type IV.
  • Bowel disorders or constipation.
  • Gastroesophageal reflux.
  • Urinary problems.
  • Heart problems, especially in the valves.
  • Myopia or problems with vision.
  • Spontaneous nosebleeds
  • Of heavy and painful periods in some women.
  • Vocal cords very sensitive and very flexible.

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People at risk for Ehlers-Danlos syndrome

People who have a family history of the disease. Most forms of Ehlers-Danlos syndrome are autosomal dominant. A parent carrying the mutation responsible for the disease has a 50% chance of transmitting the disease to each of his children.


Can we prevent?
If a family member has Ehlers-Danlos syndrome and you are about to conceive, you can go to a genetic counselor. This health professional will inform you about the risks of conceiving an affected child and ways to avoid it.


Measures to prevent aggravation
If you have Ehlers-Danlos syndrome, it’s important to prevent injuries and protect your skin and joints.

  • Avoid injuries . Avoid contact sports, lifting heavy loads, or engaging in risky activities.
  • Young children with EDS who are learning to walk are more at risk for joint dislocation. Have them wear protective clothing.
  • Use mild soaps for skin and sunscreen to prevent premature aging of the skin.

Medical treatments of Ehlers-Danlos syndrome

No drugs are currently available to treat Ehlers-Danlos syndrome. Treatments can relieve some symptoms and prevent complications.

Physical management

Specific exercises help strengthen the muscles to stabilize the joints and reduce muscle fatigue and pain. Wearing corsets or orthoses sometimes helps to stabilize the joints.


Certain medications such as topical anesthetics or non-steroidal anti-inflammatory drugs(NSAIDs), such as Advil, Motrin, Aspirin, can reduce muscle or joint pain.


In rare cases, surgery is recommended to straighten joints damaged by repeated dislocations. However, postoperative healing is difficult in people with ADS because of the fragility of the skin.

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