AFSED: Internet Site:http://www.afsed.fr
Ehlers-Danlos Syndromes :
The Ehlers-Danlos Syndromes (EDS) are a group of usually inherited connective tissue disorders, caused by faulty synthesis or structure of the collagen.
Common clinical signs:
Joint hypermobility with frequent dislocations or subluxations, Skin hyper-extensibility, fragile skin that bruises easily and has poor wound healing abilities; Pain and chronic fatigue.
The different types:
There are 13 well defined types of EDS in the 2017 classification.
The hypermobile EDS is the most frequent type affecting more women with generalized joint hypermobility, sprains, dislocations and overall chronic pain.
The Classical EDS is associated with skin and joint problems.
The Vascular EDS is the most severe and can lead to arterial complications (rupture, aneurisms), digestive (spontaneous sigmoid colon perforation) or uterine (rupture)
The other types of EDS are rarer and are associated with scoliosis, eye diseases, teeth problems…..
Genetic basis:
12 types of EDS have known genes, which allows for molecular diagnostic confirmation. They are generally inherited in the autosomal dominant pattern (with a risk of 50% if one of the parents is affected). Otherwise a mutation happened in one of the genes involved (it’s the first case in the family).
The hypermobile type has no known gene.
Diagnosis:
A clinical diagnosis is used and can be confirmed by genetic testing. Differential diagnoses are numerous. The most difficult to recognize is the hypermobile EDS from other joint hypermobility spectrum disorders.
Treatment:
Patient care relies on symptomatic treatment.
It is complex and multidisciplinary.
– Pain management with different treatments including major antalgic and pain management centers
– Compression garments, othotheses, and physical therapy to protect joints
– Sutures must be done with fine thread, non-dissolvable and left in longer (15 to 21 days)
– Reanimation and surgical teams must know EDS linked risks before any surgery.
– Psychological impact is obvious. Life hygiene is the best prevention.
– The patient’s general practitioner should oversee and centralize all information from the different specialists. The feasibility of identifying causing genes and new technology development allow to hope for specific therapies emerging.
