Every day medicine and science advance, so there are many studies on certain pathologies. However, there are several diseases that, because of their low incidence in the population, are not as studied as the most common ones. This makes them considered rare diseases, and Ehlers-Danlos syndrome is one of them.
Although each part of the world has its own assessment of what is considered and is not considered a rare disease, the truth is that it reaches very small proportions of the population. In Europe, diseases affecting 1 in 2000 people, or 0. 05% of the population. population, are considered rare.
- In this article we will present one of these diseases classified as rare: Ehlers-Danlos syndrome (EDS).
- Which affects the connective tissue of people.
- In this article we want to support and give visibility to one of the many alterations that need to be seen and listened.
Ehlers-Danlos syndrome, also known as SED, is a group of inherited and genetic connective tissue disorders that directly affect collagen, affecting the skin, joints and walls of blood vessels; in many parts of the world, it is considered a rare disease.
“A disease is considered rare when it affects a limited number of the total population, defined in Europe as less than 1 in 2000 citizens (EC Orphan Medicines Regulation). Patients and the associations that support them show that it is essential to realize that this can happen to anyone at any stage of life Isn’t it strange to have a rare disease?-FEDER. Spanish Federation of Rare Diseases
This syndrome occurs in people who have fragile skin and unusual joint flexibility and elasticity, however, there are several types, with peculiarities of their own, but it should be noted that these characteristics tend to be repeated in all cases.
There are up to thirteen different types of Ehlers-Danlos. The most common, in their low incidence, are classical laxity, ligament, vascular and cardiac. However, the full list of types that can be found in existing classes of Ehlers-Danlos syndrome would be:
People with this type of syndrome begin to notice a series of changes and pains that become increasingly continuous in their daily lives, although it is true that each type has its own characteristic symptoms, the truth is that, as noted above, they all share a number of common discomforts.
It should be noted that the presence of any of these symptoms does not mean that you have Ehlers-Danlos syndrome, just as having none does not mean otherwise.
The most common is back pain. Specifically, the affected person may feel that their back is overloaded and with some ease to generate contractures. The feeling described by people with this problem is “as if they were constantly carrying a bag of cement on their backs. “
Another of the most common symptoms is ligament laxity. This means that these people are extremely elastic, because their ligaments look like “strings of an uneciated guitar”.
More coincidences between the different cases of Ehlers-Danlos would be the saggingness of the skin and the ease with which it is damaged. A simple flash of light can lead to a large bruise or certain skin sores that, in a person without this syndrome, would not make a difference.
Flat foot can be another characteristic of people with this syndrome, so they also have cramps in their feet and walk somewhat compensated, the test would be the sole of the shoes, because one side will always be more worn than the other Also highlights the appearance of certain vision problems.
The less pleasant part of Ehlers-Danlos is accompanied by the ease of joint mobility, which eliminates the cartilage that joins the joints, causing bone movements and important contractures on certain occasions.
With this syndrome it is necessary to have some vigilance about the possibility of developing arthritis, as it may appear early; on the other hand, these people have very soft skin and, because they are so delicate, sometimes it looks totally velvety.
In most cases, people with the disease have it for a long time, as it takes an average of 3 years to arrive at a diagnosis and, in many cases, these people have been previously informed that they have other diseases, such as fibromyalgia. .
The coincidence between fibromyalgia and chronic fatigue syndrome or lupus is that a rheumatology specialist often has to make the diagnosis, are diseases with many similar points and it is not surprising that they can be confused.
The same is true of prescribed treatment, as there is currently no cure, and after a clear diagnosis it is usually necessary to continue with the sessions of physiotherapy and rehabilitation, so that in this way it is possible to decrease joint mobility.
In some types of diseases, such as cardiac valve diseases, a cardiological examination will be needed to rule out Marfan syndrome, which is very common in this type of Ehlers-Danlos and very dangerous if not treated.