With the name of Ehlers-Danlos syndrome, a group of 10 different hereditary diseases (they are transmitted genetically) that cause alteration in the constitution or characteristics of the connective tissue (tissue that forms the support of joints, bones, ligaments, skin, covers organs and blood vessels) which are classified into 13 different subtypes.
What is Ehlers-Danlos Syndrome?
Currently there are more than 200 diseases that affect the connective tissue, only a small group of 10 of these diseases are classified as Ehlers-Danlos syndrome, all of them having three characteristics in common.
· Joint hypermobility. It means that the joints of the patient who suffers from this disease have greater mobility than normal, their joints are more flexible and expandable.
· Skin hyperextensibility. It means that the skin of these patients can be very stretched, being characteristic that they can cover their mouth with the skin of the face or place the skin of the neck on the chin or over the ears.
· Tissue fragility. This means that their tissues can break easily, that is, despite being very stretchy, they are easily injured.
· Genetic disease. It means that the disease is the result of one or more genes that cause the alteration and these genes are acquired or inherited from our biological parents at the time of fertilization.
Who gets Ehlers-Danlos syndrome?
This disease can only be acquired or suffered by those people who inherited one or more genes with the mutation (genetic alteration). Genes can only be inherited from biological parents during fertilization (when the male sperm unites with the female egg and creates a new individual).
People are born with Ehlers-Danlos syndrome in any of its 13 subtypes or categories. No one can get this disease after being born without it.
Symptoms and signs
Since there are 13 different subtypes of this disease, the severity, number of symptoms and signs that each of the patients may present vary from person to person. While these symptoms and signs may vary between different individuals, a patient will only experience those of their subtype throughout their life.
· Very elastic skin. The skin may stretch more than normal.
· Inadequate healing. This means that wounds will take longer to heal or may not even completely heal, leaving gaps or holes in the skin and other tissues. These scars are known as Cigarette Paper Scars because they are very thin and wide.
· Vascular fragility. It means that the blood vessels break easily causing bleeding and even hemorrhage.
· Bruises or bruises. Due to the fragility of the blood vessels, it is common for patients with Ehlers-Danlos syndrome to exhibit multiple bruises (bruises) throughout their body.
· Abnormally mobile joints. Where the bones of the body meet are called joints. In those who suffer from Ehlers-Danlos syndrome, their range of motion is abnormal which can prevent its proper functioning.
· Frequent dislocations. Which means that because the joints are too mobile, the bones that form them can come out or dislodge from their anatomical place (normal place). A dislocation prevents the proper functioning and mobility of the compromised joint. The most frequent in these patients are that of the shoulders, fingers and knees.
· Associated congenital malformations. Scoliosis (humps), Genu recurvatum (noticeably bowed legs), pectus excavatum (sunken sternum or chest bone, and changes in the shape of the feet are common.
What alteration do patients with Ehlers-Danlos Syndrome present?
The genetic alteration produces a modification in the way in which a protein called collagen is synthesized or manufactured in the human body, reducing the quality and characteristics of this collagen.
What role does collagen have in the body and why does its alteration produce this syndrome?
Collagen can be compared to cement and iron or metals used in the construction of buildings. Collagen gives the structure to the tissues so that they stay together and with their anatomical shape. Consequently, when collagen of lower quality than the established standard is used, the resulting tissues will not be able to adequately fulfill the function for which they were designed.
Prognosis and treatment
Both the prognosis and the quality of life of patients depend on the specific subtype of Ehlers-Danlos syndrome that they suffer.
There is currently no definitive or curative treatment for this disorder. Therefore, only physiotherapies and exercises are used to strengthen muscles and ligaments in order to reduce their alterations and teach the patient how to take care of themselves. In cases that require it with extreme urgency, surgical interventions can be performed to correct joint damage.
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