Diagnosis | Ehlers-Danlos syndrome type III

Diagnosis

The first indication of a genetic defect is usually a positive family history. In order to diagnose EDS, a blood sample is then usually taken. The cells contained in this sample are then examined for genetic defects using molecular genetic methods. A result is usually available within a few days.

Therapy Ehlers-Danlos syndrome type 3

To date, no causal therapy is available for any of the Ehlers-Danlos syndrome forms. Only a timely gene therapy could achieve a cure. However, this is not yet possible according to the current state of research.

The therapy must therefore be purely symptomatic. Painkillers (analgesics) such as ibuprofen, metamizole (Novalgin) or, in severe cases, opiates are available. Regular physiotherapy and the use of aids such as crutches or wheelchairs are also helpful.

Prognosis

The Ehler-Danlos syndrome is a lifelong condition. In addition, the disease is usually progressive (progressive), which can limit the social life of those affected. However, since type III is usually a mild form, these limitations are usually less severe.

The affected persons usually have a normal life expectancy. Variants of this are unfortunately possible.