Ehlers-Danlos syndrome: what does it consist of?

Hereditary diseases affect millions of people worldwide. Unfortunately, there are pathologies such as Ehlers-Danlos syndrome, which are very rare and have no definitive cure.

Last update: November 19, 2021

Ehlers-Danlos syndrome constitutes a wide range of inherited connective tissue disorders. It represents a rare entity worldwide, whose first clinical description was made in 1892.

This pathology groups together a set of conditions characterized by an increase in the elasticity and flexibility of the joints. In addition, most patients have hyperelasticity of the skin and ease for the rupture of small blood vessels. Studies estimate a prevalence of 1 in 5,000 to 1 in 10,000 people worldwide.

Currently, about 13 types of Ehlers-Danlos syndrome have been described and more than 19 genes involved in the development of this condition. The diagnosis is based on a detailed clinical examination and the use of genetic and biochemical tests.

Causes of Ehlers-Danlos syndrome

Connective tissue is a complex network of collagen and other types of proteins that provide both elasticity and strength to the organs and tissues of the human body. In this sense, Ehlers-Danlos syndrome is the result of modifications in collagen molecules by alteration in the genes involved in its synthesis.

Collagen defects or its deficiency condition various conditions in the joints, bones and blood vessels. Research confirms that Ehlers-Danlos syndrome tends to be inherited with an autosomal dominant pattern, with the classic type being the most common, with a 35% prevalence among the others.

There are several mutations associated with the development of this pathology. However, the detection of the genetic defect is difficult. The COL5A1, COL5A2, COL1A2, COL1A1, COL3A1, ADAMTS2, PLOD1 and TNXB genes are some of those involved.

The syndrome is genetic in origin. Its detection is not easy with traditional diagnostic methods.

Symptoms

The clinical manifestations of this entity vary according to the variant of the syndrome and the severity. In general, people tend to have mild symptoms, while others have serious conditions with a high risk of death.

The main signs associated with Ehlers-Danlos syndrome are the following:

  • Elastic joints and hypermobile.
  • Pain and cracking in the joints.
  • Joint dislocations frequent.
  • Elastic, soft and velvety skin.
  • Slow healing of wounds.
  • Fragile skin with tendency to bruise.

Similarly, some people may have chronic muscle and bone pain, as well as visual problems. In rare cases, back pain, decreased muscle tone, flat feet, and gum disease may be evident.



Possible complications

The complications of Ehlers-Danlos syndrome are very varied and are associated with structural deficit of connective tissue. In general, they tend to occur in the long term, especially in patients who are not diagnosed and treated in time.

Among the complications related to this disease are the following:

  • Early-onset arthritis.
  • Joint dislocation.
  • Rupture of aortic aneurysm.
  • Early onset of labor during pregnancy.
  • Mitral valve prolapse.
  • Muscular atrophy.

How is Ehlers-Danlos syndrome diagnosed?

In most cases, the identification of Ehlers-Danlos syndrome is based on data obtained through detailed clinical evaluation. The The doctor will look for warning signs that guide this pathology during physical examination, such as hypermobile joints and elastic skin.

Similarly, family history is a fundamental pillar of suspicion. Furthermore, the so-called variants vascular, arthrochalasia and hypermobile they can be confirmed through genetic testing.

Other complementary methods that can be performed are the following:

  • Skin biopsy for collagen typing.
  • Activity of the enzyme lysyl hydroxylase.
  • Echocardiography looking for cardiovascular complications.


Treatment

Unfortunately, there is no definitive cure for Ehlers-Danlos syndrome. Treatment is aimed at alleviating the symptoms in each person, as well as avoiding future complications. Active rest is recommended and avoid overextension of the joints during acute episodes.

Pain is managed by the administration of non-steroidal anti-inflammatory drugs (NSAIDs) for short periods, such as ibuprofen and naproxen. In addition, muscle relaxants are of great help, as well as steroid infiltration in case of bursitis or associated tendinitis.

Secondly, physical therapy brings great relief in long-term control of joint conditions. Research recommends the use of magnesium and multivitamins in preventing muscle cramps and controlling brittle blood vessels.

Hematomas from the disease can be localized, but also spread to form a significant blood loss.

How to live with Ehlers-Danlos syndrome?

People with Ehlers-Danlos syndrome have mild symptoms that can be relieved with small lifestyle changes. In this sense, it is essential to know all the details about the disease, as well as to have the support of family and friends.

Similarly, you have to maintain an adequate habit of exercise of mild to moderate intensity. Some of the most recommended sports activities are yoga, walking, swimming and cycling. Also, people should avoid contact sports and weight lifting as they increase the risk of injury.

Doctors advise wearing shoes with good support with the aim of preventing dislocations or sprains. On the other hand, jaw protection is essential, avoiding chewing gum, ice and very crunchy foods. In addition, adequate rest should be sought, using body pillows and foam mattresses.

For any unusual symptoms or intensification of known conditions, seek medical attention. Only health professionals are trained to provide proper treatment and guidance for recovery.

It might interest you …