Ehlers-Danlos syndrome: types, symptoms, causes and treatment.

A group of disorders affecting the skin and connective tissue.

Possibly on some occasion we have seen how someone could stretch their skin to unusual limits, or how some people are able to make twists with different parts of their body that escape most people because they have hyperlaxity.

In most of these cases we see it as a curiosity, and the truth is that about 10% of the population presents this characteristic without having a major problem.

However, there is a much more severe problem that sometimes shares some characteristics with hyperlax people, except that in their case it appears together with other symptoms that are detrimental to their quality of life and can even be dangerous for their survival. This is Ehlers-Danlos syndrome.a rare and unusual genetic disease which we are going to talk about in this article.

What is Ehlers-Danlos syndrome?

It receives the name of syndrome of Ehlers-Danlos to a strange and unusual syndrome, of genetic origin, that is characterized by the presence of alterations of the connective tissue and specifically by deficits in the production of collagen.. These deficits, which occur at a generalized level throughout the body, result in skin, joints, Blood vessels or even organs being affected. It is a disease mainly observed in humans, although some cases have also been seen in other animals.

Although there is a great heterogeneity, among the main and most notorious symptoms of this disorder we can find the presence of hyperlaxity in joints and ligaments, hyperelasticity of the skin and ecchymosis (lesions in which hemorrhages appear within the skin, such as those produced by a blow), as well as muscle weakness and tissue fragility. (lesions in which hemorrhages appear inside the skin, like those produced by a blow), as well as muscular weakness and fragility in the tissues: it is not uncommon for bruises to appear at the slightest blow, pain in the joints or ease for dislocations and dislocations to appear.

In some cases it can be linked to arthritis, respiratory problems and vision problems.. In severe cases, it can lead to rupture of internal organs, heart problems or deformities, as well as chronic pain or molluscan tumors.

Ehlers-Danlos syndrome is a very rare disease, affecting only 1 in 5,000 people and seems to occur more often in women and children. It often occurs comorbidly with other problems such as chronic fatigue, tendinitis, hearing loss, fibromyalgia or scoliosis. In some cases it is mistaken for celiac disease or even abuse. As the subjects grow older, the hyperlaxity tends to decrease, but the pain and the complications derived from it remain..

It is a syndrome whose variety can vary, going from a mild problem to, and especially in some subtypes, can have fatal repercussions. This is especially relevant in cases with vascular or organ problems, in which there may be rupturesThis is especially relevant in cases with vascular or organ problems, where there may be ruptures of the blood vessels or the walls of the intestines or uterus (in this case pregnancy and childbirth may be especially delicate).

Although in most cases life expectancy is normal and there is no decrease, the symptoms and possible complications can impair and diminish the quality of life.

Main types

Ehlers-Danlos syndrome is not a homogeneous disorder, but is highly heterogeneous. In fact, rather than a single disorder, we could speak of a group of them, with severalThere are several typologies.

Although in the past up to thirteen variants were considered to exist, the types of syndrome were later reclassified and reduced to a total of 6 (losing or integrating into others such as fragile cornea, spondylocheiral dysplastic, musculocontractual, periodontitis type or the one generated by tenascin-X deficiency), which are presented below.

1. Classic type

Of all the variants of the syndrome, the so-called classical type is the most common, and is characterized by hypermobility and is characterized by hypermobility of the joints and hyperelasticity and extensibility of the skin, together with fragility of these joints and skin.together with the fragility of these tissues. Complete bending of the fingers, dislocations, dislocations, dislocations and sprains are common, and benign neoplasms may occur.

Small injuries often result in large hematomas, and events such as pregnancy can be dangerous.and events such as pregnancy can be dangerous. Mitral insufficiencies may appear as a consequence of deformities in the cardiac valves, besides hernias are frequent in different points of the digestive tract.

2. Hypermobile type

This is the second most common type, and in this case we observe hyperelasticity and mobility of joints (which dislocate easily) especially in areas such as arms and legs, as well as frequent pain and hypersensitivity to it. Contrary to the previous type, fragility of the skin or tissues is not so common..

3. Vascular type

Probably the most serious and dangerous of all the subtypes, although fortunately less frequent than the previous ones, is the vascular type of Ehlers-Danlos syndrome.

In this type the skin is not elastic and there is no hyperlaxity in the joints (except perhaps in the fingers), but the skin and other tissues are thin and fragile (it is not uncommon to be able to see veins through the skin). Especially and as you can guess from the name the fragility of the arteries and other blood vessels as well as the organs is especially noteworthy.This is the most lethal of all the diseases.

This is the most lethal of all subtypes and the only one that reduces life expectancy, the cause of death usually being the rupture of veins and arteries of intestines or uterus (also in this case the risk during pregnancy is high).

4. Kyphoscoliotic type

A very rare subtype (in which there are hardly any diagnosed cases) which presents characteristics similar to the classic one, with the added feature of a congenital scoliosis. the added feature of the presence of a congenital scoliosis that worsens over time. that worsens with the passage of time.

It is usual that there is an increasing weakness at muscular level, osteopenia, and it is possible that a psychomotor retardation appears. In some cases they may eventually lose the ability to walk.

It may involve typical symptoms of Marfan syndrome, from the typical morphology (extremely long limbs) including the risk of involvement of the aorta artery. They may also have visual problems, including rupture of the eyeball, although this is not as common.

5. Arthrochalasic type

Another of the rare subtypes, it is characterized by hyperlaxity in the joints, osteopenia and, as a general rule, presence of congenital or frequent dislocations in both hips.. There also tends to be hypotonia.

6. Dermatosparaplegic type

Possibly the least common and with hardly any recognized cases.This subtype is characterized by skin fragility and laxity, with frequent herniations and loss of elasticity. It is very common to suffer hematomas.

What are the causes?

Ehlers-Danlos syndrome is, as we have said, a disorder, or rather a group of disorders, of genetic origin. Thus, the problems in the synthesis of collagen that generate most of the aforementioned symptoms derive from the presence of mutations in different genes of the organism.

Some of the genes whose mutations have been associated with this type of syndrome are COL5A1, COL5A2, COL5A3, COL5A3 and COL5A3. are COL5A1, COL5A2, ADAMTS2, COL1A1, COL1A2, PLOD2 or TNXB. However, in some cases it is not known which genetic alterations may be causing the problem.

Although there are de novo cases in people with no family history, the findings seem to indicate that in many cases we are dealing with an inherited disorder. in many cases we are dealing with an inherited disorder. In the most common subtypes the inheritance is autosomal dominant (especially in the classic or hypermobile subtypes), while in the less common subtypes the inheritance is autosomal recessive (something that occurs in the dermatosparaxis type or in the vascular or kyphoscoliosis types).

Treatment of this syndrome

The Ehlers-Danlos syndrome is a disorder of genetic origin that does not have a curative treatment, being the existing treatments those directed to correct or palliate the symptoms and alterations that it generates..

Each specific case will require a specific and specialized treatment. For example, it is possible to perform occupational therapy or physiotherapy to improve motor difficulties or psychomotor delays.The patient may also have to undergo surgery to correct cardiac problems, drain hemorrhages, install prostheses or restraints, or remove tumors.

In addition, it must be taken into account that both patients and their environment may present psychological problems such as anxiety, depression, self-esteem problems, etc. psychological problems such as anxiety, depression, self-esteem problems, and difficulties in different and difficulties in different areas of their daily lives. In this sense, psychoeducation and the application of different psychological therapies can be useful, depending on the case.