Ehlers Danlos Syndrome

Ehlers Danlos Syndrome

The syndrome is named after two physicians, Edouard Dahler of Denmark and Henri Alexandre Danels of France, who described the syndrome at the end of the twentieth century. Ehlers-Danlos Syndrome is a group of rare genetic disorders that cause defects in the synthesis and production of collagen in humans. Symptoms will vary among people, depending on the complication. But the most common symptoms include bruising, loose and slippery joints, increased skin elasticity and tissue weakness. The severity of this syndrome can range from mild to life-threatening. This syndrome has not been definitively treated so far and the treatment is more supportive for the person.

Prevalence and epidemiology

The prevalence of the disease is estimated at 1 in 250,000 to 1 in 50,000 in the general population. However, studies in larger areas indicate an increase in the incidence of this disease, and researchers believe that the extent of this disease is wider than estimated because the disease is more diverse. Ehlers Danlos Syndrome is equally common in men and women of all ethnicities and races.

Cause of illness

Different types of this syndrome are based on the type of change that has occurred in an individual's genes. The most important challenge in this syndrome is fibrous proteins, the presence of which causes the elasticity and strength of connective tissue. These proteins alter the function of the enzyme, the lack of which causes weakness and instability of connective tissue.

Symptoms of the disease

Common signs and symptoms of this syndrome include:

  • Excessive flexibility or fragility of the skin
  • Abnormal wound healing with long healing process
  • Excessive flexibility of joints that have an excessive range of motion.
  • Dislocations of the shoulders, hips, knees and fingers
  • Muscle weakness
  • Electromechanical delay in human skeletal muscle
  • Skin bruising
  • Heart diseases and spontaneous rupture of arterial walls
  • Family history, cerebral aneurysm or colon


Detection method

Diagnosis of this syndrome is based on patients' clinical findings and family history. In some types of the syndrome, genetic tests, urine tests, skin biopsies or ultrasounds, or heart ultrasound are used to diagnose the condition.


Due to the fact that the occurrence of this syndrome is due to gene mutations, so there is no definitive treatment for this syndrome and further treatment will alleviate the symptoms and complications caused by this syndrome. One of the most important therapeutic measures in these people is to teach self-care methods in order to prevent unwanted dislocations and injuries or bruises. Due to the fact that the involvement of organs in this syndrome is very variable and extensive, the treatment team will also need different specialists.

Surgical considerations:

If a person needs to have surgery, he or she should inform his or her doctor about the syndrome. Your doctor may use tissue adhesives instead of stitches when closing the incision.

Pain management:

If a person has chronic joint pain, it is best to consult a doctor for better pain management. This includes options for using painkillers, physical therapy, or a combination of both treatments.

In physical therapy; The specialist may set up an activity plan that strengthens the muscles, which in turn will help make the joints more stable. People with this syndrome should be careful to avoid any activity that puts pressure on loose joints.

Necessary care

Because this syndrome is caused by a gene mutation and can be inherited, if there is a family history of this syndrome, it is better to do genetic counseling before having children. With genetic counseling, the risk of developing this syndrome in the next generation and its incidence in the fetus is determined.

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