Ehlers-Danlos syndrome type III
Under the concept of Ehler-Danlos Syndrome (EDS for short) include a number of different diseases in which the Collagen synthesis is disturbed due to genetic defects.
Collagens, in turn, are one Group of proteins, which is the most important fiber component of Skin, bones, tendons, cartilage, blood vessels and teeth a significant one Support function exercise.
About a quarter of all proteins in the human body are collagens. A faulty collagen synthesis has far-reaching consequences, which, depending on the Ehler-Danlos type, can be more or less far-reaching.
Compared to other Ehlers-Danlos sub-forms, the symptoms are at Type III however, mostly mild, but a full picture of the disease is also possible in type III. A causal (eliminating the cause) therapy is still not available today.
The following topic is all about that Type III, general information and about the other types can be found under our topic: Ehler-Danlos Syndrome
The estimated frequency of the Ehler-Danlos syndrome type III lies by 1:5.000 (one affected person for every 5,000 non-affected persons) to 1:20.000. Thus, type III of Ehler-Danlos syndrome is the most common of all forms of Ehler-Danlos syndrome. Both sexes are roughly equally often affected.
In the majority of those affected, the cause of the disease is defects two geneswhich are responsible for collagen synthesis.
In many other sufferers, however, the origin of the syndrome is still unclear. Ultimately, in each case there is a reduced density of collagen in the various tissues; the structure of the Collagen itself is not changed.
Ehler-Danlos syndrome is inherited as an autosomal dominant trait. "Dominant" means that the disease breaks out when only one parent passes the corresponding genes on to the offspring. "Autosomal" in turn expresses that inheritance is passed on via the body chromosomes, which are not involved in determining the sex. For this reason, both sexes are affected equally often.
According to the current definition, this will be Ehler-Danlos Syndrome Type III as "hypermobile guy" designated. This designation describes the main aspect of Type III quite well. In contrast to the other sub-forms of EDS, sick people suffer Not under a partial 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.
The focus here is on excessive mobility of the joints and frequent dislocation (dislocation / dislocation) of these. As a result of the excessive mobility, the joints often hurt and there is a tendency to osteoarthritis and degenerative changes in the intervertebral discs. In addition to these symptoms, increased tiredness, dry mouth and inflammation of the gums can occur.
First hint at one Genetic defect is usually one positive family history.
To diagnose an EDS, an blood sample won. The cells contained in this sample will eventually be with molecular genetic procedures examined for genetic defects.
A result is usually within less days in front.
Therapy Ehlers-Danlos syndrome type 3
Until today is for no of the Ehlers-Danlos syndrome forms causal therapy available.
Only one timely gene therapy could achieve a cure. However, according to the current state of research, this is not yet possible.
Therapy must therefore be pure symptomatic respectively. This is on the one hand Painkiller (Analgesics) such as Ibuprofen, Metamizole (Novalgin) or in severe cases opiate to disposal.
Regular use of physiotherapy and the provision of aids such as crutches or wheelchairs.
Ehler-Danlos syndrome is one lifelong state. In addition, the disease usually runs progressive (progressive), which can limit the social life of those affected.
Since the Type III but mostly by one mild form these restrictions are usually lower. Those affected usually have one normal life expectancy. Variants of this are unfortunately possible.