Definition
The term Ehler-Danlos Syndrome (EDS for short) covers a number of different diseases in which collagen synthesis is disturbed due to genetic defects. Collagens, in turn, are a group of proteins which, as the most important fibrous component of skin, bones, tendons, cartilage, blood vessels and teeth, perform an important supporting function. About one quarter of all proteins in the human body are collagens.
A faulty collagen synthesis has far-reaching consequences, which can be more or less extensive depending on the Ehler-Danlos type. Compared to other Ehlers-Danlos subtypes, however, the symptoms of type III are usually mild, but a full picture of the disease is still possible in type III. A causal (eliminating the cause) therapy is still not available. The following topic deals only with Type III, general information and on the other types can be found under our topic: Ehler-Danlos Syndrome
Frequency
The estimated incidence of Ehler-Danlos Syndrome Type III is between 1:5,000 (one affected person in 5,000 non-affected persons) and 1:20,000, making Type III Ehler-Danlos Syndrome the most common of all forms of Ehler-Danlos Syndrome. Both sexes are affected with approximately equal frequency.
Cause
In the majority of those affected, the cause of the disease lies in defects in two genes responsible for collagen synthesis. In many other patients, however, the origin of the syndrome is still unknown. Ultimately, in all cases there is a reduced density of collagen in the various tissues; the structure of the collagen itself is not changed.
The Ehler-Danlos syndrome is inherited autosomal-dominantly. “Dominant” here means that the disease already breaks out when only one parent passes on the corresponding genes to the descendants. “Autosomal” in turn expresses that the inheritance is passed on via the body chromosomes, which are not involved in determining sex. For this reason, both sexes are equally affected.
Symptoms
According to the current definition, the Ehler-Danlos syndrome type III is called “hypermobile type”. This term describes the main aspect of Type III quite well. In contrast to the other subforms of EDS, patients do not suffer from a partially life-threatening involvement of the organs and blood vessels or abnormal wound healing.
For this reason, the disease is often only recognized after many years. In the foreground here is an over-mobility of the joints and a frequent dislocation of these joints. As a result of the over mobility the joints often hurt and there is a tendency to arthrosis and degenerative changes in the intervertebral discs. In addition to these complaints, increased tiredness, dry mouth and gum inflammation can occur.
